Disorders of purine and pyrimidine metabolism
•Download as PPTX, PDF•
1 like•853 views
This document discusses disorders of purine and pyrimidine metabolism. It begins by describing nucleotides and their role in various metabolic functions. It then focuses on the synthesis and degradation of purines, including a multi-step process for inosine monophosphate synthesis in the liver. Disorders covered include xanthinuria, caused by a deficiency in xanthine oxidase leading to kidney stones, and orotic aciduria, associated with megaloblastic anemia due to decreased pyrimidine synthesis. The document provides details on causes, symptoms, diagnosis, and treatment for these disorders of purine and pyrimidine metabolism.
Report
Share
Report
Share
Recommended
PYRIMIDINE DEGRADATION & DISORDERS
The document summarizes pyrimidine nucleotide degradation and the salvage pathway. It also describes orotic aciduria, a rare metabolic disorder characterized by orotic acid in urine, anemia, and stunted growth. Orotic aciduria can be caused by deficiencies in enzymes involved in pyrimidine synthesis or a defect in the urea cycle enzyme ornithine transcarbamoylase, which diverts carbamoyl phosphate to increased orotic acid synthesis. The condition can be treated by supplementing with cytidine or uridine.
COVALENT MODIFICATION AND ZYMOGEN ACTIVATION
1) Covalent modifications, both reversible and irreversible, play important roles in regulating enzyme function. Reversible modifications like phosphorylation fine-tune enzyme activity, while irreversible proteolysis activates zymogens into active enzymes.
2) Digestive enzymes like trypsinogen are synthesized as inactive zymogens to avoid unwanted catalysis, then activated through limited and specific proteolysis. This proteolysis removes inhibitory peptide sequences and allows catalytic activity.
3) Activation of zymogens through proteolytic cascades amplifies hormonal signals, allowing a small stimulus to elicit a large response. This cascade activation greatly increases the potency and efficiency of regulation compared to direct hormone binding.
Purine degradation
The document summarizes the steps involved in purine degradation in humans. Uric acid is the end product of purine metabolism in humans. Nucleotide monophosphates are converted to nucleosides by nucleotidase. Inosine and guanosine are formed from purine bases and adenine can be converted to inosine. Xanthine oxidase converts hypoxanthine to xanthine and xanthine to uric acid, which is the final excretory product in humans and can serve as an antioxidant. Most other animals degrade uric acid further to allantoin by uricase.
Bpt 114. purine and pyrimidine metabolism
Purines and pyrimidines are heterocyclic nitrogen-containing compounds that are major components of nucleotides, which build DNA and RNA. They function as building blocks of nucleic acids and are involved in various cellular processes as components of coenzymes and metabolic regulators. Nucleotides are synthesized through both de novo and salvage pathways. The de novo synthesis of purines involves multiple steps utilizing various substrates and is regulated at several points to control nucleotide levels. IMP is an early intermediate that is converted to AMP and GMP through reciprocal regulation. Purine degradation yields uric acid, while ingested nucleic acids undergo digestion and absorption as nucleosides and bases to contribute to nucleotide synthesis.
Inborn errors of purine and pyrimidine metabolism
This document discusses inborn errors of purine and pyrimidine metabolism. It notes that errors can occur in the enzymes involved in these pathways, affecting processes like de novo synthesis, salvage, and catabolism of purines and pyrimidines. Important disorders discussed include primary gout, Lesch-Nyhan syndrome, adenosine deaminase deficiency, and purine nucleoside phosphorylase deficiency. Treatment options aim to lower uric acid levels through drugs like allopurinol or increase urinary excretion of uric acid. Disorders of pyrimidine metabolism are also discussed, including different types of orotic aciduria.
Glycoproteins
- Glycoproteins are proteins that contain oligosaccharide chains covalently attached to their polypeptide backbones. They serve important biological roles.
- There are two main classes of glycoproteins: O-linked, where sugars attach to serine or threonine residues, and N-linked, where sugars attach to asparagine residues.
- Diseases can result from defects in glycoprotein biosynthesis, such as I-cell disease caused by a defect in N-linked glycosylation and congenital disorders of glycosylation caused by various defects impacting O-linked or N-linked glycosylation.
De novo and salvage pathway of nucleotides synthesis.pptx
This slides explains Metabolism topic "De novo and salvage pathway of nucleotides synthesis. In which synthesis of Purines and pyrimidines synthesis has been occurred. In last there is a difference between these two pathways.
De novo and salvage pathway of purines
Jayati Mishra presented on the de novo and salvage pathways of purines under the guidance of Pradip Hirapue. The presentation discussed:
1) The de novo pathway synthesizes purine nucleotides from simple precursors through a two-stage process forming IMP and then converting it to AMP or GMP.
2) The salvage pathway recycles purine bases and nucleosides obtained from the diet or cell turnover to form nucleotides.
3) Both pathways work together to synthesize the purine nucleotides needed for nucleic acid synthesis, with the salvage pathway playing a larger role in certain tissues.
Recommended
PYRIMIDINE DEGRADATION & DISORDERS
The document summarizes pyrimidine nucleotide degradation and the salvage pathway. It also describes orotic aciduria, a rare metabolic disorder characterized by orotic acid in urine, anemia, and stunted growth. Orotic aciduria can be caused by deficiencies in enzymes involved in pyrimidine synthesis or a defect in the urea cycle enzyme ornithine transcarbamoylase, which diverts carbamoyl phosphate to increased orotic acid synthesis. The condition can be treated by supplementing with cytidine or uridine.
COVALENT MODIFICATION AND ZYMOGEN ACTIVATION
1) Covalent modifications, both reversible and irreversible, play important roles in regulating enzyme function. Reversible modifications like phosphorylation fine-tune enzyme activity, while irreversible proteolysis activates zymogens into active enzymes.
2) Digestive enzymes like trypsinogen are synthesized as inactive zymogens to avoid unwanted catalysis, then activated through limited and specific proteolysis. This proteolysis removes inhibitory peptide sequences and allows catalytic activity.
3) Activation of zymogens through proteolytic cascades amplifies hormonal signals, allowing a small stimulus to elicit a large response. This cascade activation greatly increases the potency and efficiency of regulation compared to direct hormone binding.
Purine degradation
The document summarizes the steps involved in purine degradation in humans. Uric acid is the end product of purine metabolism in humans. Nucleotide monophosphates are converted to nucleosides by nucleotidase. Inosine and guanosine are formed from purine bases and adenine can be converted to inosine. Xanthine oxidase converts hypoxanthine to xanthine and xanthine to uric acid, which is the final excretory product in humans and can serve as an antioxidant. Most other animals degrade uric acid further to allantoin by uricase.
Bpt 114. purine and pyrimidine metabolism
Purines and pyrimidines are heterocyclic nitrogen-containing compounds that are major components of nucleotides, which build DNA and RNA. They function as building blocks of nucleic acids and are involved in various cellular processes as components of coenzymes and metabolic regulators. Nucleotides are synthesized through both de novo and salvage pathways. The de novo synthesis of purines involves multiple steps utilizing various substrates and is regulated at several points to control nucleotide levels. IMP is an early intermediate that is converted to AMP and GMP through reciprocal regulation. Purine degradation yields uric acid, while ingested nucleic acids undergo digestion and absorption as nucleosides and bases to contribute to nucleotide synthesis.
Inborn errors of purine and pyrimidine metabolism
This document discusses inborn errors of purine and pyrimidine metabolism. It notes that errors can occur in the enzymes involved in these pathways, affecting processes like de novo synthesis, salvage, and catabolism of purines and pyrimidines. Important disorders discussed include primary gout, Lesch-Nyhan syndrome, adenosine deaminase deficiency, and purine nucleoside phosphorylase deficiency. Treatment options aim to lower uric acid levels through drugs like allopurinol or increase urinary excretion of uric acid. Disorders of pyrimidine metabolism are also discussed, including different types of orotic aciduria.
Glycoproteins
- Glycoproteins are proteins that contain oligosaccharide chains covalently attached to their polypeptide backbones. They serve important biological roles.
- There are two main classes of glycoproteins: O-linked, where sugars attach to serine or threonine residues, and N-linked, where sugars attach to asparagine residues.
- Diseases can result from defects in glycoprotein biosynthesis, such as I-cell disease caused by a defect in N-linked glycosylation and congenital disorders of glycosylation caused by various defects impacting O-linked or N-linked glycosylation.
De novo and salvage pathway of nucleotides synthesis.pptx
This slides explains Metabolism topic "De novo and salvage pathway of nucleotides synthesis. In which synthesis of Purines and pyrimidines synthesis has been occurred. In last there is a difference between these two pathways.
De novo and salvage pathway of purines
Jayati Mishra presented on the de novo and salvage pathways of purines under the guidance of Pradip Hirapue. The presentation discussed:
1) The de novo pathway synthesizes purine nucleotides from simple precursors through a two-stage process forming IMP and then converting it to AMP or GMP.
2) The salvage pathway recycles purine bases and nucleosides obtained from the diet or cell turnover to form nucleotides.
3) Both pathways work together to synthesize the purine nucleotides needed for nucleic acid synthesis, with the salvage pathway playing a larger role in certain tissues.
Metabolism of nucleotides new
1. The document summarizes purine and pyrimidine nucleotide metabolism, including the de novo and salvage pathways of purine biosynthesis, regulation of purine synthesis, conversion of ribonucleotides to deoxyribonucleotides, degradation of purines to uric acid, and disorders of purine metabolism like hyperuricemia, gout, and Lesch-Nyhan syndrome.
2. Key aspects of purine synthesis covered include the formation of IMP from PRPP as the first purine nucleotide, and the subsequent generation of AMP and GMP from IMP. Degradation of purines culminates in the production of uric acid as the final product in humans.
3. Disorders discussed arise
Nucleotides metabolism
This document discusses nucleotides, their synthesis and degradation. It covers the following key points:
1. Nucleotides are composed of a nucleoside (a nitrogenous base linked to a 5-carbon sugar) bound to one or more phosphate groups. They are the monomers that make up nucleic acids like RNA and DNA.
2. Purine nucleotides are synthesized de novo through a complex 10 step pathway beginning with phosphoribosyl pyrophosphate (PRPP) and ending with inosine monophosphate (IMP). Pyrimidine nucleotides can also be synthesized from PRPP.
3. Nucleotides can be broken down through both intracellular catabolism pathways that generate purine
Heteropolysaccharides
This document discusses heteropolysaccharides, also known as heteroglycans or glycosaminoglycans (GAGs). GAGs are polymers made from more than one type of monosaccharide or monosaccharide derivative. Examples include those found in plants like agar and pectin, and those found in humans like hyaluronic acid, chondroitin sulfate, and heparin. The document describes the composition, location, and functions of several major GAGs, including their roles in structures like the extracellular matrix, cartilage, and blood groups. Proteoglycans are also discussed, which are core proteins that have one or more GAG chains covalently attached.
Metabolism of Brached Chain Amino Acid (Valine, Isoleucine, Leucine)
Branched chain amino acids include leucine, isoleucine, and valine. They are broken down by the branched chain alpha-ketoacid dehydrogenase complex in mitochondria. A defect in this enzyme can cause branched chain ketoaciduria, where patients accumulate branched chain amino acids and their keto acids in their urine, which smells like maple syrup or burnt sugar. This rare genetic disorder impairs other amino acid transport and protein synthesis, and can lead to seizures, vomiting, ketoacidosis, coma, and death if not treated with a low-branched chain amino acid diet and thiamine supplementation.
PYRUVATE DEHYDROGENASE COMPLEX (PDH-MULTI-ENZYME COMPLEX)
Pyruvate is converted to acetyl CoA by the pyruvate dehydrogenase (PDH) complex in the mitochondria. PDH is a multi-enzyme complex containing five coenzymes and three enzymes that catalyzes the oxidative decarboxylation of pyruvate. This generates acetyl CoA, NADH, and FADH2, with the NADH and FADH2 contributing to ATP production through oxidative phosphorylation. PDH activity is regulated by phosphorylation/dephosphorylation and end-product inhibition by acetyl CoA and NADH.
PHENYLALANINE METABOLISM
Phenylalanine is converted to tyrosine by the enzyme phenylalanine hydroxylase in the liver. Tyrosine can then be incorporated into proteins or converted to important compounds like melanin, thyroid hormones, dopamine, norepinephrine, and epinephrine. The metabolism of phenylalanine and tyrosine involves multiple enzymatic steps and requires cofactors like biopterin, ascorbic acid, and molecular oxygen. Disorders in these pathways can lead to conditions like albinism or Parkinson's disease.
Metabolism of nucleotides
This document provides an overview of pyrimidine and purine nucleotide metabolism. It discusses the de novo synthesis and salvage pathways for both purine and pyrimidine nucleotides. The key enzymes and reactions involved in synthesis and regulation are described. Disorders resulting from defects in purine and pyrimidine metabolism are also reviewed, including gout, Lesch-Nyhan syndrome, immunodeficiencies, and infantile autism.
Biosynthesis of purine
The document summarizes the biosynthesis and metabolism of purines. It describes that purines are heterocyclic compounds consisting of two rings and are widely found in nature. There are two pathways for purine nucleotide synthesis - de novo synthesis which builds nucleotides from simple precursors, and the salvage pathway which recovers bases from degraded DNA and RNA. The de novo synthesis involves multiple steps using compounds from amino acids, formate, glycine and bicarbonate. Disorders of purine metabolism can cause hyperuricemia and gout due to deposition of urate crystals in joints. Lesch-Nyhan syndrome is a rare genetic disorder characterized by excessive uric acid production and self-mutilating behavior.
Amino acid catabolism
The document summarizes the catabolism of amino acids. It discusses how excess amino acids are degraded by removing their amino groups via transamination and oxidative deamination, forming ammonia and keto acids. Most ammonia is incorporated into urea in the liver via the urea cycle for excretion. The amino acid pool is supplied from endogenous protein breakdown, dietary protein, and nonessential amino acid synthesis. It is depleted through protein synthesis, incorporation into other molecules, and oxidation. Protein turnover constantly synthesizes and degrades proteins. The steps of amino acid catabolism include transamination, oxidative deamination, ammonia transport to the liver, and the urea cycle.
PURINE DEGRADATION & GOUT
The document summarizes purine metabolism in humans. Uric acid is the end product of purine metabolism and is produced through multiple steps starting from nucleotides. It is produced in the liver and excreted in urine. Abnormalities in purine metabolism can cause hyperuricemia and gout due to deposition of urate crystals. Several genetic disorders such as HGPRT deficiency (Lesch-Nyhan syndrome) are also discussed that affect purine metabolism.
Glycoproteins
Glycoproteins are proteins that contain carbohydrate chains covalently attached. They can be O-linked, N-linked or GPI-anchored. Glycoproteins play important structural and functional roles like cell adhesion and acting as receptors. They are synthesized through a complex process in the endoplasmic reticulum and Golgi apparatus. Congenital disorders of glycosylation can occur from mutations affecting glycoprotein synthesis. Blood groups are also determined by glycoproteins on red blood cell surfaces.
Purine pyrimidine metabolism and disorder
The document discusses metabolism of purine and pyrimidine bases and related disorders. It describes the de novo synthesis and salvage pathways of purines, involving enzymes like phosphoribosyl pyrophosphate, glutamine, and formyl-THF. Defects can cause increased purine production and degradation, leading to high uric acid levels and gout. The pyrimidine pathway is also summarized, involving carbamoyl phosphate, aspartate, orotic acid, and enzymes like thymidylate synthase. Certain cancers overexpress thymidylate synthase, making it a drug target. The document concludes by mentioning types of orotic aciduria due to defects in pyrimid
Pyrimidine Biosynthesis
The six-step de novo pyrimidine biosynthesis pathway converts aspartate and bicarbonate into UMP. The first step produces carbamoyl phosphate from glutamine and bicarbonate. Carbamoyl phosphate then reacts with aspartate to form carbamoyl aspartate. Ring closure produces dihydroorotate, which is oxidized to orotate. Orotate is attached to PRPP to form OMP. OMP is decarboxylated to produce the final product UMP. UMP can be further modified to CTP and other pyrimidine nucleotides. The pathway is regulated by feedback inhibition of early enzymes by end products.
Fructose & galactose metabolism
This document discusses the metabolism of fructose and galactose. It outlines the dietary sources and absorption pathways of each sugar. Fructose is metabolized separately in the liver and muscle, while galactose is metabolized through a pathway involving phosphorylation, reduction, and synthesis of UDP-galactose. The document also describes inborn errors that can occur in these metabolic pathways, including fructokinase deficiency, aldolase B deficiency, and classic galactosemia due to galactose-1-phosphate uridylyltransferase deficiency. These errors can result in conditions like fructosuria, fructose intolerance, and galactosemia.
CYSTEINE METABOLISM
Cysteine is formed from methionine through a series of reactions involving homocysteine and serine. Homocysteine condenses with serine to form cystathionine, which is then cleaved by cystathioninase to form cysteine and α-ketobutyrate. Cysteine can be oxidized to form taurine or participate in glutathione synthesis. Defects in cysteine metabolism can cause cystinuria, cystinosis, and homocystinurias, characterized by accumulation of cystine, cysteine, or homocysteine respectively, potentially leading to organ damage.
SERINE & THREONINE METABOLISM
Serine is a non-essential amino acid that can be synthesized from glycolysis intermediates. It participates in one-carbon metabolism by donating methylene groups, and it is involved in the synthesis of several other amino acids, phospholipids, and sphingolipids. Serine can be converted to pyruvate through transamination and deamination reactions. Threonine is an essential amino acid that can be cleaved to form glycine, acetaldehyde, and derivatives that enter the citric acid cycle or form pyruvate and lactate. Both amino acids play important roles in biosynthesis as carriers of phosphate groups.
Biosynthesis of phospholipids
BIOSYNTHESIS OF PHOSPHOLIPIDS
Phospholipids:-
These are compounds containing, in addition to fatty acid and glycerol, phosphoric acid, nitrogenous bases, and another substituent. Polar compounds composed of alcohol attached by phosphodiester bridge to either diacylglycerol or sphingosine.
Amphipathic in nature has a hydrophilic head (phosphate +alcohol
eg., serine, ethanolamine, and choline) and a long, hydrophobic tail
(fatty acids or derivatives ).
- CLASSIFICATION OF PHOSPHOLIPIDS:-
- Glycerophospholipids
- Spingophospholipids or Sphingomyelin
- SYNTHESIS OF PHOSPHOLIPIDS
- FUNCTIONS OF PHOSPHOLIPIDS
- FUNCTIONS OF SPHINGOLIPIDS
Metabolism of amino acids
Transamination and the urea cycle are two key metabolic pathways for processing amino acids in the body. Transamination allows for the interconversion of amino acids and intermediates in carbohydrate metabolism pathways. The urea cycle processes excess nitrogen produced during amino acid catabolism into urea for excretion. Phenylketonuria is a disorder caused by mutations that decrease the metabolism of phenylalanine. This can lead to toxic buildup of phenylalanine and associated neurological impairments if left untreated with a phenylalanine-restricted diet and nutritional supplements. Alkaptonuria is another inborn error of amino acid metabolism resulting from a deficiency in homogentisate oxidase that causes discoloration of
TRYPTOPHAN METABOLISM
Tryptophan is an essential amino acid that is metabolized through two main pathways - the kynurenine pathway and serotonin pathway. The kynurenine pathway leads to the production of NAD+ and takes place mainly in the liver. This pathway involves the enzymes tryptophan pyrrolase and kynureninase. Deficiencies in these enzymes or vitamin B6 can cause reduced NAD+ synthesis and manifestations of pellagra. The serotonin pathway produces the neurotransmitter serotonin from tryptophan in various tissues like the brain, gut and blood platelets. Serotonin is involved in behaviors, sleep, and gastrointestinal function. Melatonin is also derived from serotonin metabolism and regulates circadian rhyth
Purine degradation
This document summarizes purine biosynthesis and degradation. Purine is synthesized through an 11 step pathway forming IMP, the parent nucleotide. IMP is then used to synthesize AMP and GMP. Purines are broken down to uric acid through a multi-step process. Gout is caused by excessive uric acid formation due to increased purine biosynthesis or decreased excretion leading to uric acid crystal deposition in joints.
Inborn errors of protein metabolism
Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Purine catabolism
explains the breakdown of purine. source and excretion of purine is explained. hyperuricemia and hypouricemia is discussed. types of Gout, clinical features and treatment is included.
More Related Content
What's hot
Metabolism of nucleotides new
1. The document summarizes purine and pyrimidine nucleotide metabolism, including the de novo and salvage pathways of purine biosynthesis, regulation of purine synthesis, conversion of ribonucleotides to deoxyribonucleotides, degradation of purines to uric acid, and disorders of purine metabolism like hyperuricemia, gout, and Lesch-Nyhan syndrome.
2. Key aspects of purine synthesis covered include the formation of IMP from PRPP as the first purine nucleotide, and the subsequent generation of AMP and GMP from IMP. Degradation of purines culminates in the production of uric acid as the final product in humans.
3. Disorders discussed arise
Nucleotides metabolism
This document discusses nucleotides, their synthesis and degradation. It covers the following key points:
1. Nucleotides are composed of a nucleoside (a nitrogenous base linked to a 5-carbon sugar) bound to one or more phosphate groups. They are the monomers that make up nucleic acids like RNA and DNA.
2. Purine nucleotides are synthesized de novo through a complex 10 step pathway beginning with phosphoribosyl pyrophosphate (PRPP) and ending with inosine monophosphate (IMP). Pyrimidine nucleotides can also be synthesized from PRPP.
3. Nucleotides can be broken down through both intracellular catabolism pathways that generate purine
Heteropolysaccharides
This document discusses heteropolysaccharides, also known as heteroglycans or glycosaminoglycans (GAGs). GAGs are polymers made from more than one type of monosaccharide or monosaccharide derivative. Examples include those found in plants like agar and pectin, and those found in humans like hyaluronic acid, chondroitin sulfate, and heparin. The document describes the composition, location, and functions of several major GAGs, including their roles in structures like the extracellular matrix, cartilage, and blood groups. Proteoglycans are also discussed, which are core proteins that have one or more GAG chains covalently attached.
Metabolism of Brached Chain Amino Acid (Valine, Isoleucine, Leucine)
Branched chain amino acids include leucine, isoleucine, and valine. They are broken down by the branched chain alpha-ketoacid dehydrogenase complex in mitochondria. A defect in this enzyme can cause branched chain ketoaciduria, where patients accumulate branched chain amino acids and their keto acids in their urine, which smells like maple syrup or burnt sugar. This rare genetic disorder impairs other amino acid transport and protein synthesis, and can lead to seizures, vomiting, ketoacidosis, coma, and death if not treated with a low-branched chain amino acid diet and thiamine supplementation.
PYRUVATE DEHYDROGENASE COMPLEX (PDH-MULTI-ENZYME COMPLEX)
Pyruvate is converted to acetyl CoA by the pyruvate dehydrogenase (PDH) complex in the mitochondria. PDH is a multi-enzyme complex containing five coenzymes and three enzymes that catalyzes the oxidative decarboxylation of pyruvate. This generates acetyl CoA, NADH, and FADH2, with the NADH and FADH2 contributing to ATP production through oxidative phosphorylation. PDH activity is regulated by phosphorylation/dephosphorylation and end-product inhibition by acetyl CoA and NADH.
PHENYLALANINE METABOLISM
Phenylalanine is converted to tyrosine by the enzyme phenylalanine hydroxylase in the liver. Tyrosine can then be incorporated into proteins or converted to important compounds like melanin, thyroid hormones, dopamine, norepinephrine, and epinephrine. The metabolism of phenylalanine and tyrosine involves multiple enzymatic steps and requires cofactors like biopterin, ascorbic acid, and molecular oxygen. Disorders in these pathways can lead to conditions like albinism or Parkinson's disease.
Metabolism of nucleotides
This document provides an overview of pyrimidine and purine nucleotide metabolism. It discusses the de novo synthesis and salvage pathways for both purine and pyrimidine nucleotides. The key enzymes and reactions involved in synthesis and regulation are described. Disorders resulting from defects in purine and pyrimidine metabolism are also reviewed, including gout, Lesch-Nyhan syndrome, immunodeficiencies, and infantile autism.
Biosynthesis of purine
The document summarizes the biosynthesis and metabolism of purines. It describes that purines are heterocyclic compounds consisting of two rings and are widely found in nature. There are two pathways for purine nucleotide synthesis - de novo synthesis which builds nucleotides from simple precursors, and the salvage pathway which recovers bases from degraded DNA and RNA. The de novo synthesis involves multiple steps using compounds from amino acids, formate, glycine and bicarbonate. Disorders of purine metabolism can cause hyperuricemia and gout due to deposition of urate crystals in joints. Lesch-Nyhan syndrome is a rare genetic disorder characterized by excessive uric acid production and self-mutilating behavior.
Amino acid catabolism
The document summarizes the catabolism of amino acids. It discusses how excess amino acids are degraded by removing their amino groups via transamination and oxidative deamination, forming ammonia and keto acids. Most ammonia is incorporated into urea in the liver via the urea cycle for excretion. The amino acid pool is supplied from endogenous protein breakdown, dietary protein, and nonessential amino acid synthesis. It is depleted through protein synthesis, incorporation into other molecules, and oxidation. Protein turnover constantly synthesizes and degrades proteins. The steps of amino acid catabolism include transamination, oxidative deamination, ammonia transport to the liver, and the urea cycle.
PURINE DEGRADATION & GOUT
The document summarizes purine metabolism in humans. Uric acid is the end product of purine metabolism and is produced through multiple steps starting from nucleotides. It is produced in the liver and excreted in urine. Abnormalities in purine metabolism can cause hyperuricemia and gout due to deposition of urate crystals. Several genetic disorders such as HGPRT deficiency (Lesch-Nyhan syndrome) are also discussed that affect purine metabolism.
Glycoproteins
Glycoproteins are proteins that contain carbohydrate chains covalently attached. They can be O-linked, N-linked or GPI-anchored. Glycoproteins play important structural and functional roles like cell adhesion and acting as receptors. They are synthesized through a complex process in the endoplasmic reticulum and Golgi apparatus. Congenital disorders of glycosylation can occur from mutations affecting glycoprotein synthesis. Blood groups are also determined by glycoproteins on red blood cell surfaces.
Purine pyrimidine metabolism and disorder
The document discusses metabolism of purine and pyrimidine bases and related disorders. It describes the de novo synthesis and salvage pathways of purines, involving enzymes like phosphoribosyl pyrophosphate, glutamine, and formyl-THF. Defects can cause increased purine production and degradation, leading to high uric acid levels and gout. The pyrimidine pathway is also summarized, involving carbamoyl phosphate, aspartate, orotic acid, and enzymes like thymidylate synthase. Certain cancers overexpress thymidylate synthase, making it a drug target. The document concludes by mentioning types of orotic aciduria due to defects in pyrimid
Pyrimidine Biosynthesis
The six-step de novo pyrimidine biosynthesis pathway converts aspartate and bicarbonate into UMP. The first step produces carbamoyl phosphate from glutamine and bicarbonate. Carbamoyl phosphate then reacts with aspartate to form carbamoyl aspartate. Ring closure produces dihydroorotate, which is oxidized to orotate. Orotate is attached to PRPP to form OMP. OMP is decarboxylated to produce the final product UMP. UMP can be further modified to CTP and other pyrimidine nucleotides. The pathway is regulated by feedback inhibition of early enzymes by end products.
Fructose & galactose metabolism
This document discusses the metabolism of fructose and galactose. It outlines the dietary sources and absorption pathways of each sugar. Fructose is metabolized separately in the liver and muscle, while galactose is metabolized through a pathway involving phosphorylation, reduction, and synthesis of UDP-galactose. The document also describes inborn errors that can occur in these metabolic pathways, including fructokinase deficiency, aldolase B deficiency, and classic galactosemia due to galactose-1-phosphate uridylyltransferase deficiency. These errors can result in conditions like fructosuria, fructose intolerance, and galactosemia.
CYSTEINE METABOLISM
Cysteine is formed from methionine through a series of reactions involving homocysteine and serine. Homocysteine condenses with serine to form cystathionine, which is then cleaved by cystathioninase to form cysteine and α-ketobutyrate. Cysteine can be oxidized to form taurine or participate in glutathione synthesis. Defects in cysteine metabolism can cause cystinuria, cystinosis, and homocystinurias, characterized by accumulation of cystine, cysteine, or homocysteine respectively, potentially leading to organ damage.
SERINE & THREONINE METABOLISM
Serine is a non-essential amino acid that can be synthesized from glycolysis intermediates. It participates in one-carbon metabolism by donating methylene groups, and it is involved in the synthesis of several other amino acids, phospholipids, and sphingolipids. Serine can be converted to pyruvate through transamination and deamination reactions. Threonine is an essential amino acid that can be cleaved to form glycine, acetaldehyde, and derivatives that enter the citric acid cycle or form pyruvate and lactate. Both amino acids play important roles in biosynthesis as carriers of phosphate groups.
Biosynthesis of phospholipids
BIOSYNTHESIS OF PHOSPHOLIPIDS
Phospholipids:-
These are compounds containing, in addition to fatty acid and glycerol, phosphoric acid, nitrogenous bases, and another substituent. Polar compounds composed of alcohol attached by phosphodiester bridge to either diacylglycerol or sphingosine.
Amphipathic in nature has a hydrophilic head (phosphate +alcohol
eg., serine, ethanolamine, and choline) and a long, hydrophobic tail
(fatty acids or derivatives ).
- CLASSIFICATION OF PHOSPHOLIPIDS:-
- Glycerophospholipids
- Spingophospholipids or Sphingomyelin
- SYNTHESIS OF PHOSPHOLIPIDS
- FUNCTIONS OF PHOSPHOLIPIDS
- FUNCTIONS OF SPHINGOLIPIDS
Metabolism of amino acids
Transamination and the urea cycle are two key metabolic pathways for processing amino acids in the body. Transamination allows for the interconversion of amino acids and intermediates in carbohydrate metabolism pathways. The urea cycle processes excess nitrogen produced during amino acid catabolism into urea for excretion. Phenylketonuria is a disorder caused by mutations that decrease the metabolism of phenylalanine. This can lead to toxic buildup of phenylalanine and associated neurological impairments if left untreated with a phenylalanine-restricted diet and nutritional supplements. Alkaptonuria is another inborn error of amino acid metabolism resulting from a deficiency in homogentisate oxidase that causes discoloration of
TRYPTOPHAN METABOLISM
Tryptophan is an essential amino acid that is metabolized through two main pathways - the kynurenine pathway and serotonin pathway. The kynurenine pathway leads to the production of NAD+ and takes place mainly in the liver. This pathway involves the enzymes tryptophan pyrrolase and kynureninase. Deficiencies in these enzymes or vitamin B6 can cause reduced NAD+ synthesis and manifestations of pellagra. The serotonin pathway produces the neurotransmitter serotonin from tryptophan in various tissues like the brain, gut and blood platelets. Serotonin is involved in behaviors, sleep, and gastrointestinal function. Melatonin is also derived from serotonin metabolism and regulates circadian rhyth
Purine degradation
This document summarizes purine biosynthesis and degradation. Purine is synthesized through an 11 step pathway forming IMP, the parent nucleotide. IMP is then used to synthesize AMP and GMP. Purines are broken down to uric acid through a multi-step process. Gout is caused by excessive uric acid formation due to increased purine biosynthesis or decreased excretion leading to uric acid crystal deposition in joints.
What's hot (20)
Metabolism of Brached Chain Amino Acid (Valine, Isoleucine, Leucine)
Metabolism of Brached Chain Amino Acid (Valine, Isoleucine, Leucine)
PYRUVATE DEHYDROGENASE COMPLEX (PDH-MULTI-ENZYME COMPLEX)
PYRUVATE DEHYDROGENASE COMPLEX (PDH-MULTI-ENZYME COMPLEX)
Similar to Disorders of purine and pyrimidine metabolism
Inborn errors of protein metabolism
Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Purine catabolism
explains the breakdown of purine. source and excretion of purine is explained. hyperuricemia and hypouricemia is discussed. types of Gout, clinical features and treatment is included.
Purinecatabolism slideshare
The document discusses purine catabolism and gout. It notes that the end product of purine catabolism in humans is uric acid. Hyperuricemia occurs when uric acid levels are above normal limits and can lead to gout. Gout is characterized by sudden, severe attacks of pain and inflammation in joints, especially those of the big toes, due to the formation of urate crystals in the joints. The treatment of gout involves reducing purine intake, medications to reduce inflammation and uric acid levels such as allopurinol, and drugs that increase uric acid excretion from the body like probenecid.
Disorders of nucleic acid metabolism
This document discusses disorders of nucleic acid metabolism, focusing on disorders of purine and pyrimidine metabolism. It describes several purine metabolism disorders including hyperuricemia, gout, Lesch-Nyhan syndrome, and Von Gierke disease. Hyperuricemia occurs when uric acid levels are too high and can be caused by overproduction of uric acid or issues with excretion. Gout is caused by hyperuricemia and results in painful inflammatory arthritis. The document also briefly discusses hypouricemia, pyrimidine disorders like orotic acidurias, and specific conditions like Lesch-Nyhan syndrome and Von Gierke disease.
Nucleotide metabolism
Nucleotide metabolism, purine metabolism, pyrimidine metabolismSalvage pathway, Denovo synthesis of Purine, Gout( Primary and secondary), lesch-nyhan syndrome, Orotic aciduria,ADA deaminase deficiency,
Uric acid
Uric acid is produced from the catabolism of purines and dietary nucleic acids. It exists mainly as monosodium urate in the body. Hyperuricemia occurs when serum uric acid levels are above 7 mg/dL in men and 6 mg/dL in women and can lead to gout if urate crystals deposit in joints. Uric acid is filtered by the kidneys and mostly reabsorbed, with 6-12% excreted in urine. The uricase method is commonly used to measure uric acid levels in serum and urine and involves the enzymatic conversion of uric acid to allantoin and hydrogen peroxide.
Purines metabolism.pptx
This document discusses the biosynthesis and catabolism of purine nucleotides. It begins by introducing purine and pyrimidine bases and their roles in nucleotides. It then describes the 11 step biosynthesis pathway of inosine monophosphate (IMP), the parent nucleotide of purine nucleotides, and how AMP and GMP are synthesized from IMP. It also discusses the salvage pathway for recycling purines. The document concludes by covering disorders of purine metabolism including hyperuricemia, gout, and Lesch-Nyhan syndrome.
PPT II Disorders associated with nucleotides metabolism.pptx
Disorders of nucleotide metabolism can involve purine or pyrimidine metabolism. Disorders of purine metabolism can cause hyperuricemia or hypouricemia. Lesch-Nyhan syndrome is an X-linked disorder causing HGPRTase deficiency, decreased purine salvage, accumulation of PRPP, reduced inhibitory purine nucleotides, self-mutilation and mental retardation. Disorders of pyrimidine metabolism include orotic aciduria types I and II, causing orotic acid accumulation, megaloblastic anemia and growth issues. Anticancer agents like methotrexate and fluorouracil inhibit enzymes involved in purine and pyrimidine synthesis.
Metabolic 5 5-2013
This document summarizes various inborn errors of metabolism, including:
- Disorders of amino acid metabolism such as phenylketonuria (PKU), tyrosinemia, maple syrup urine disease (MSUD), homocystinuria, and nonketotic hyperglycinemia.
- Urea cycle defects which result in abnormal nitrogen metabolism and elevated ammonia levels.
- Disorders of organic acid metabolism including propionic acidemia, methylmalonic acidemia, isovaleric acidemia, and glutaric aciduria type 1.
- A disorder of fatty acid metabolism, medium-chain acyl-CoA dehydrogenase deficiency (MCAD), is also mentioned.
uric acid
Uric acid is produced through the breakdown of purines in the liver and transported to the kidneys. The kidneys filter uric acid from the blood and most is reabsorbed, with about 300mg excreted daily in urine. High levels of uric acid can cause deposition of urate crystals in the joints, leading to painful gout. Gout progresses through asymptomatic, acute arthritic attacks, and chronic stages with tophi formation. Various disorders and medications can cause hyperuricemia by increasing production or decreasing excretion of uric acid.
RENAL TUBULAR ACIDOSIS_Natarajan.pptx
Renal tubular acidosis (RTA) occurs when the kidneys do not remove enough acid from the blood into the urine, resulting in metabolic acidosis. There are four main types of RTA - distal RTA (type 1), proximal RTA (type 2), carbonic anhydrase deficiency (type 3), and hyperkalemic distal RTA (type 4). The types differ in which part of the kidney tubule is affected and the underlying cause, but all result in excess acid in the bloodstream. Symptoms range from fatigue and weakness to kidney stones and growth issues in children. Diagnosis involves blood and urine tests, while treatment focuses on correcting the acid-base imbalance and any electrolyte abnormalities
Dyselectrolytemia
This document provides information on electrolyte disorders presented by Dr. S. Keerthi at J.S.P.S Govt Homoeopathic Medical College. It defines electrolyte disorders as imbalances in ions like sodium, potassium, calcium, magnesium, bicarbonate, phosphate, and chloride. For each electrolyte, the document outlines its normal range, functions, causes of deficiencies and excesses, associated signs and symptoms, and treatment considerations. The goal is to educate on electrolyte regulation and disorders seen in clinical practice.
Immuno deficiency disorder Associated with purine metabolism
Immuno deficiency disorder Associated with purine metabolismMarudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
Xanthinuria
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.
Orotic aciduria
Orotic aciduria is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines. It is the only known enzyme deficiency of the de novo pyrimidine synthesis pathway.
Gout
Gout is caused by a condition known as hyperuricemia, where there is too much uric acid in the body.
metab. of nucleotide 1.pptx
- Purines are synthesized through de novo and salvage pathways. The de novo pathway involves 10 steps that use PRPP to synthesize IMP from simple precursors like glycine and aspartate. IMP is then converted to AMP and GMP.
- The salvage pathway recycles purine bases released from nucleic acid breakdown to form nucleotides. It requires less energy than de novo synthesis.
- Uric acid is the end product of purine degradation in humans. Elevated uric acid can cause gout if crystals form in the joints. Gout is treated through diet, drugs like allopurinol, and NSAIDs.
ACUTE KIDNEY INJURY.pptx
1. Acute kidney injury (AKI) is the sudden deterioration of renal function that can range from mild to severe. It is a global problem associated with high morbidity and mortality.
2. AKI is classified based on location of injury (pre-renal, intrinsic, post-renal), urine output, and severity of decline in renal function. Common causes include sepsis, nephrotoxins, and decreased renal perfusion.
3. Management involves treating the underlying cause, maintaining fluid/electrolyte balance, and potentially renal replacement therapy for complications like fluid overload or severe electrolyte imbalances. Outcomes depend on factors like age, cause, and need for dialysis.
Genito-urinary Surgery And Anesthesia.pptx
The document discusses renal anatomy and physiology, effects of anesthesia on renal function, and perioperative management of patients with renal disease. It notes that anesthesia can decrease renal blood flow and glomerular filtration rate through various direct and indirect mechanisms. Factors that increase risk of perioperative acute kidney injury are described. Assessment of renal function includes history, exam, labs, and urine analysis. Management involves maintaining perfusion and fluid balance, using appropriate anesthetic agents, and monitoring for complications in the postoperative period.
Renal function test
The document summarizes renal function tests. It discusses how the kidneys maintain homeostasis by regulating water, electrolyte, and acid-base balance. They also excrete metabolic waste and retain vital substances. The kidneys have hormonal functions, producing erythropoietin, calcitriol, renin, angiotensin II, and aldosterone. Renal function tests assess glomerular and tubular function by measuring clearance, electrolyte excretion, and analyzing blood and urine. Abnormal results can indicate renal or other diseases. Tests of renal function are important for managing kidney disease and drug dosing.
URINALYSIS CHEM PATH.pptx
This document provides an overview of urinalysis including its indications, methods of collection and preservation, physical and chemical examination, and microscopic examination. A urinalysis is a common medical test that can screen for and diagnose diseases of the kidneys, urinary tract, and other bodily systems by analyzing the physical characteristics, chemical components, and cellular contents of a urine sample. Key aspects covered include normal versus abnormal physical findings, chemical testing using dipsticks, and microscopic evaluation of urine sediment.
Purine and Pyrimidine Metabolism.pptx
The document summarizes purine and pyrimidine metabolism. It discusses how nucleotides are essential for DNA/RNA synthesis and energy transfer. Nucleotides are synthesized through de novo and salvage pathways. De novo synthesis occurs mainly in the liver while salvage pathways recycle purines and pyrimidines from endogenous sources. Certain genetic defects like Lesch-Nyhan disease result from deficiencies in salvage enzymes and cause issues like hyperuricemia and neurological deterioration.
Management of uremic complications
This document discusses the management of complications from uremia. It begins by outlining the presentation of uremia and describing the three spheres of dysfunction in the uremic syndrome: low molecular weight water soluble compounds, middle molecules, and protein-bound compounds. It focuses on protein-bound uremic toxins, their sources and effects, and difficulties removing them through dialysis. The document then covers clinical abnormalities in uremia including fluid and electrolyte disturbances, endocrine issues, and neuromuscular symptoms. It provides details on managing sodium imbalance, hyperkalemia, hypokalemia, and metabolic acidosis.
Similar to Disorders of purine and pyrimidine metabolism (20)
PPT II Disorders associated with nucleotides metabolism.pptx
PPT II Disorders associated with nucleotides metabolism.pptx
Immuno deficiency disorder Associated with purine metabolism
Immuno deficiency disorder Associated with purine metabolism
Recently uploaded
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
Context. With a mass exceeding several 104 M⊙ and a rich and dense population of massive stars, supermassive young star clusters
represent the most massive star-forming environment that is dominated by the feedback from massive stars and gravitational interactions
among stars.
Aims. In this paper we present the Extended Westerlund 1 and 2 Open Clusters Survey (EWOCS) project, which aims to investigate
the influence of the starburst environment on the formation of stars and planets, and on the evolution of both low and high mass stars.
The primary targets of this project are Westerlund 1 and 2, the closest supermassive star clusters to the Sun.
Methods. The project is based primarily on recent observations conducted with the Chandra and JWST observatories. Specifically,
the Chandra survey of Westerlund 1 consists of 36 new ACIS-I observations, nearly co-pointed, for a total exposure time of 1 Msec.
Additionally, we included 8 archival Chandra/ACIS-S observations. This paper presents the resulting catalog of X-ray sources within
and around Westerlund 1. Sources were detected by combining various existing methods, and photon extraction and source validation
were carried out using the ACIS-Extract software.
Results. The EWOCS X-ray catalog comprises 5963 validated sources out of the 9420 initially provided to ACIS-Extract, reaching a
photon flux threshold of approximately 2 × 10−8 photons cm−2
s
−1
. The X-ray sources exhibit a highly concentrated spatial distribution,
with 1075 sources located within the central 1 arcmin. We have successfully detected X-ray emissions from 126 out of the 166 known
massive stars of the cluster, and we have collected over 71 000 photons from the magnetar CXO J164710.20-455217.
Micronuclei test.M.sc.zoology.fisheries.
Current Ms word generated power point presentation covers major details about the micronuclei test. It's significance and assays to conduct it. It is used to detect the micronuclei formation inside the cells of nearly every multicellular organism. It's formation takes place during chromosomal sepration at metaphase.
Unlocking the mysteries of reproduction: Exploring fecundity and gonadosomati...
The pygmy halfbeak Dermogenys colletei, is known for its viviparous nature, this presents an intriguing case of relatively low fecundity, raising questions about potential compensatory reproductive strategies employed by this species. Our study delves into the examination of fecundity and the Gonadosomatic Index (GSI) in the Pygmy Halfbeak, D. colletei (Meisner, 2001), an intriguing viviparous fish indigenous to Sarawak, Borneo. We hypothesize that the Pygmy halfbeak, D. colletei, may exhibit unique reproductive adaptations to offset its low fecundity, thus enhancing its survival and fitness. To address this, we conducted a comprehensive study utilizing 28 mature female specimens of D. colletei, carefully measuring fecundity and GSI to shed light on the reproductive adaptations of this species. Our findings reveal that D. colletei indeed exhibits low fecundity, with a mean of 16.76 ± 2.01, and a mean GSI of 12.83 ± 1.27, providing crucial insights into the reproductive mechanisms at play in this species. These results underscore the existence of unique reproductive strategies in D. colletei, enabling its adaptation and persistence in Borneo's diverse aquatic ecosystems, and call for further ecological research to elucidate these mechanisms. This study lends to a better understanding of viviparous fish in Borneo and contributes to the broader field of aquatic ecology, enhancing our knowledge of species adaptations to unique ecological challenges.
Cytokines and their role in immune regulation.pptx
This presentation covers the content and information on "Cytokines " and their role in immune regulation .
bordetella pertussis.................................ppt
Bordettela is a gram negative cocobacilli spread by air born drop let
Deep Software Variability and Frictionless Reproducibility
Deep Software Variability and Frictionless ReproducibilityUniversity of Rennes, INSA Rennes, Inria/IRISA, CNRS
The ability to recreate computational results with minimal effort and actionable metrics provides a solid foundation for scientific research and software development. When people can replicate an analysis at the touch of a button using open-source software, open data, and methods to assess and compare proposals, it significantly eases verification of results, engagement with a diverse range of contributors, and progress. However, we have yet to fully achieve this; there are still many sociotechnical frictions.
Inspired by David Donoho's vision, this talk aims to revisit the three crucial pillars of frictionless reproducibility (data sharing, code sharing, and competitive challenges) with the perspective of deep software variability.
Our observation is that multiple layers — hardware, operating systems, third-party libraries, software versions, input data, compile-time options, and parameters — are subject to variability that exacerbates frictions but is also essential for achieving robust, generalizable results and fostering innovation. I will first review the literature, providing evidence of how the complex variability interactions across these layers affect qualitative and quantitative software properties, thereby complicating the reproduction and replication of scientific studies in various fields.
I will then present some software engineering and AI techniques that can support the strategic exploration of variability spaces. These include the use of abstractions and models (e.g., feature models), sampling strategies (e.g., uniform, random), cost-effective measurements (e.g., incremental build of software configurations), and dimensionality reduction methods (e.g., transfer learning, feature selection, software debloating).
I will finally argue that deep variability is both the problem and solution of frictionless reproducibility, calling the software science community to develop new methods and tools to manage variability and foster reproducibility in software systems.
Exposé invité Journées Nationales du GDR GPL 2024
ANAMOLOUS SECONDARY GROWTH IN DICOT ROOTS.pptx
Abnormal or anomalous secondary growth in plants. It defines secondary growth as an increase in plant girth due to vascular cambium or cork cambium. Anomalous secondary growth does not follow the normal pattern of a single vascular cambium producing xylem internally and phloem externally.
原版制作(carleton毕业证书)卡尔顿大学毕业证硕士文凭原版一模一样
原版纸张【微信：741003700 】【(carleton毕业证书)卡尔顿大学毕业证】【微信：741003700 】学位证，留信认证（真实可查，永久存档）offer、雅思、外壳等材料/诚信可靠,可直接看成品样本，帮您解决无法毕业带来的各种难题！外壳，原版制作，诚信可靠，可直接看成品样本。行业标杆！精益求精，诚心合作，真诚制作！多年品质 ,按需精细制作，24小时接单,全套进口原装设备。十五年致力于帮助留学生解决难题，包您满意。
本公司拥有海外各大学样板无数，能完美还原海外各大学 Bachelor Diploma degree, Master Degree Diploma
1:1完美还原海外各大学毕业材料上的工艺：水印，阴影底纹，钢印LOGO烫金烫银，LOGO烫金烫银复合重叠。文字图案浮雕、激光镭射、紫外荧光、温感、复印防伪等防伪工艺。材料咨询办理、认证咨询办理请加学历顾问Q/微741003700
留信网认证的作用:
1:该专业认证可证明留学生真实身份
2:同时对留学生所学专业登记给予评定
3:国家专业人才认证中心颁发入库证书
4:这个认证书并且可以归档倒地方
5:凡事获得留信网入网的信息将会逐步更新到个人身份内，将在公安局网内查询个人身份证信息后，同步读取人才网入库信息
6:个人职称评审加20分
7:个人信誉贷款加10分
8:在国家人才网主办的国家网络招聘大会中纳入资料，供国家高端企业选择人才
Nucleic Acid-its structural and functional complexity.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
Thornton ESPP slides UK WW Network 4_6_24.pdf
ESPP presentation to EU Waste Water Network, 4th June 2024 “EU policies driving nutrient removal and recycling
and the revised UWWTD (Urban Waste Water Treatment Directive)”
Shallowest Oil Discovery of Turkiye.pptx
The Petroleum System of the Çukurova Field - the Shallowest Oil Discovery of Türkiye, Adana
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
Sharlene Leurig - Enabling Onsite Water Use with Net Zero WaterTexas Alliance of Groundwater Districts
Presented at June 6-7 Texas Alliance of Groundwater Districts Business Meeting20240520 Planning a Circuit Simulator in JavaScript.pptx
Evaporation step counter work. I have done a physical experiment.
(Work in progress.)
Randomised Optimisation Algorithms in DAPHNE
Slides from talk:
Aleš Zamuda: Randomised Optimisation Algorithms in DAPHNE .
Austrian-Slovenian HPC Meeting 2024 – ASHPC24, Seeblickhotel Grundlsee in Austria, 10–13 June 2024
https://ashpc.eu/
Equivariant neural networks and representation theory
Or: Beyond linear.
Abstract: Equivariant neural networks are neural networks that incorporate symmetries. The nonlinear activation functions in these networks result in interesting nonlinear equivariant maps between simple representations, and motivate the key player of this talk: piecewise linear representation theory.
Disclaimer: No one is perfect, so please mind that there might be mistakes and typos.
dtubbenhauer@gmail.com
Corrected slides: dtubbenhauer.com/talks.html
Recently uploaded (20)
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...
mô tả các thí nghiệm về đánh giá tác động dòng khí hóa sau đốt
mô tả các thí nghiệm về đánh giá tác động dòng khí hóa sau đốt
Unlocking the mysteries of reproduction: Exploring fecundity and gonadosomati...
Unlocking the mysteries of reproduction: Exploring fecundity and gonadosomati...
Cytokines and their role in immune regulation.pptx
Cytokines and their role in immune regulation.pptx
bordetella pertussis.................................ppt
bordetella pertussis.................................ppt
Deep Software Variability and Frictionless Reproducibility
Deep Software Variability and Frictionless Reproducibility
Nucleic Acid-its structural and functional complexity.
Nucleic Acid-its structural and functional complexity.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
Sharlene Leurig - Enabling Onsite Water Use with Net Zero Water
20240520 Planning a Circuit Simulator in JavaScript.pptx
20240520 Planning a Circuit Simulator in JavaScript.pptx
Equivariant neural networks and representation theory
Equivariant neural networks and representation theory
Disorders of purine and pyrimidine metabolism
- 1. DISORDERS OF PURINE AND PYRIMIDINE METABOLISM AZEEM ASLAM BS BIOCHEMISTRY LAHORE GARRISON UNIVERSITY
- 2. NUCLEOTIDES: • Nucleotides are composed of a nitrogenous base, a pentose sugar and a phosphate. • Purine and pyrimidine nucleotide, beside being structural components of DNA and RNA, are involved in a wide variety of metabolic function energy metabolism, protein synthesis control of enzymes activity etc.
- 3. PURINE NUCLEOTIDE: • The nitrogenous base found in nucleotide are aromatic heterocyclic compounds which are in two types purine and pyrimidine. • 2-aminopurine Adenine guanine 2-amino 6-oxypurine
- 4. SYNTHESIS: • Liver is the major site for the synthesis of purine nucleotide. • Generally, pathway takes place for the synthesis of Inosine Monophosphate which is the parent nucleotide of purine nucleotide. • For the synthesis of Inosine Monophosphate, the reaction takes place in total 11 steps.
- 9. DEGRADATION OF CATABOLISM OF PURINE NUCLEOTIDE: • Uric acid is the final excretory product of purine metabolism in humans. • Uric acid can serve as an important antioxidant by getting itself converted to allatonin.
- 11. BIOSYNTHESIS OF PYRIMIDINE NUCLEOTIDES
- 12. INTRODUCTION: • The synthesis of pyrimidine is a much simpler process compared to that of purines. • Aspartate, glutamine and CO2 contribute to atoms in the formation of pyrimidine ring. Thymine Cytosine Uracil
- 15. DISORDERS OF PURINE METABOLISM: • Xanthinuria • Orotic aciduria
- 16. XANTHINURIA: • Xanthinuria, is a rare genetic disorder causing the accumulation of xanthine. • It is caused by a deficiency of the enzyme Xanthine oxidase. • It was first formally characterized in 1954.
- 17. OVERVIEW: • Hereditary Xanthinuria is a purine metabolic disorder due to inherited deficiency of the dehydrogenase/oxidase enzyme and is characterized by very low Concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
- 18. XANTHINURIA: • Xanthine oxidase deficiency, due to either genetic defect or due to severe Liver damage. • Increase excretion of Hypoxanthine and xanthine. • So decreased uric acid.
- 19. CAUSES: Type I xanthinuria can be caused by deficiency of xanthine dehydrogenase, which is an enzyme necessary for converting xanthine to uric acid. Type II xanthinuria caused by molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine. Xanthinuria can be caused by mutations in the xanthine dehydrogenase gene, aldehyde oxidase gene, or the molybdenum cofactor gene. Xanthinuria may also be caused by treatment of uric acid excretion with allopurinol therapy.
- 20. SYMPTOMS: • Nausea • Vomiting • Abdominal Pain • Joint Pain • Fever • Acute renal failure • Kidney stones
- 21. DIAGNOSIS: • Diagnosis is based on estimation of uric acid in blood and urine. If hypouricemia is confirmed, detailed purine metabolic investigation follows, and includes measurement of xanthine and hypoxanthine in urine and plasma. ➔ Ultrasonography: reveals the presence of xanthine.
- 22. TREATMENT: • There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine, avoiding foods and drinks that contain xanthine derivatives, such as coffee, tea, and cola.
- 23. OROTIC ACIDURIA: • Orotic aciduria refers to an excessive excretion of Orotic acid in urine. • Orotic acid is an intermediate product in pyrimidine synthesis pathway, a subsequent product of which plays a role in conversion between dihydrofolate and tetrahydrofolate. • Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.
- 24. SIGNS AND SYMPTOMS: • It causes a characteristic form of anemia and may be associated with mental and physical retardation. • In addition to the characteristic excessive Orotic acid in the urine, patients typically have megaloblastic anemia which cannot be cured by administration of vitamin B12 or folic acid. • It also can cause inhibition of RNA and DNA synthesis and failure to thrive. This can lead to mental and physical retardation.
- 25. DIAGNOSE: • A diagnosis of hereditary Orotic aciduria is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and examination of the urine. • Examination of the urine (urinalysis) can reveal elevated levels of Orotic acid. • Hereditary Orotic aciduria by assessing blood ammonia levels and blood urea nitrogen (BUN).
- 26. TREATMENT: • Treat with feeding diet rich in Uridine /Cytidine • This provide Pyrimidine nucleotides through Salvage Pathway. • Also the introduced Pyrimidine bases inhibits CPS II enzyme by feed back mechanism and block synthesis of Oroticaciduria.
- 27. DISORDER OF PYRIMIDINE METABOLISM: • Orotic aciduria • Reye’s syndrome
- 28. REYE’S SYNDROME • This is considered as a secondary Orotic aciduria. • Due to defect in ornithine transcarbamoylase causes the accumulation of carbamoyl phosphate. • This is then diverted for the increased synthesis and excretion of Orotic acid.
- 29. REFERENCES: Textbook of Biochemistry-U Satyanarayana Textbook of Biochemistry-DM Vasudevan