PPT II Disorders associated with nucleotides metabolism.pptx
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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.
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Disorders of purine and pyrimidine metabolism
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.
Iron metabolism
- Iron is essential for hemoglobin and myoglobin and the total body iron content is around 3-5g, with most found in blood, liver, bone marrow and muscles.
- Daily iron requirements vary from 20mg for adults to 40mg for pregnant women. Absorption is regulated to maintain iron balance in the body.
- Sources of iron include leafy vegetables, pulses, cereals, liver and meat. Absorption is affected by factors like ascorbic acid and interfering substances like phytic acid.
Urea cycle defect hyperammonemia
The document summarizes urea cycle defects and hyperammonemia. It discusses that defects in any of the six urea cycle enzymes or two transporters can cause toxic buildup of ammonia in the blood. Specific urea cycle disorders are described including ornithine transcarbamylase deficiency and N-acetylglutamate synthase deficiency. Treatment focuses on removing ammonia through hemodialysis or drug therapy, and maintaining a protein-restricted diet to prevent further ammonia production. Long-term management requires monitoring amino acid intake and considering liver transplantation.
Metabolic Disorders of Phenylalanine and Tyrosine
Phenylketonuria is caused by a defect in the enzyme phenylalanine hydroxylase, leading to accumulation of phenylalanine. If untreated, it can cause intellectual disability, seizures, and other issues. Tyrosinemia type II results from a defect in tyrosine transaminase, causing tyrosine and metabolite buildup. Neonatal tyrosinemia is temporary and responds to vitamin C. Alkaptonuria is caused by homogentisate oxidase deficiency, allowing homogentisate to accumulate and be excreted in urine, potentially causing joint and organ problems. Tyrosinemia type I involves fumarylacetoacetate hydroxylase deficiency, which can lead to
Purine & pyrimidine metabolism and disorders
Purine & pyrimidine metabolism and disordersInternational Medicine School - Management and Science University
Purine and pyrimidine nucleotides play important roles in the body, including forming DNA and RNA and acting as carriers of energy and active intermediates. There are two pathways for nucleotide synthesis: de novo synthesis starting from metabolic precursors, and salvage pathways that recycle bases from nucleic acid breakdown. IMP is an important intermediate that is converted to AMP and GMP. Defects in purine metabolism can cause disorders like gout, kidney stones, and Lesch-Nyhan syndrome. Orotaciduria is a pyrimidine synthesis disorder caused by a deficiency in orotate-phosphoribosyltransferase.Heme Biosynthesis and Its disorders (Porphyria)
Hemoglobin is a protein in red blood cells that transports oxygen and carbon dioxide throughout the body. It is made up of four subunits, each containing a heme group with iron at its center. Heme biosynthesis is a multi-step pathway that takes place in the mitochondria and cytoplasm, starting from succinyl-CoA and glycine and resulting in protoporphyrin with iron inserted at the final step to form heme. Regulation of heme biosynthesis occurs through feedback inhibition of the rate-limiting enzyme ALA synthase by heme levels. Deficiencies in the heme biosynthesis pathway can cause various types of porphyrias, a group of rare genetic disorders characterized by neurological and skin abnormalities.
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.
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.
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Disorders of purine and pyrimidine metabolism
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.
Iron metabolism
- Iron is essential for hemoglobin and myoglobin and the total body iron content is around 3-5g, with most found in blood, liver, bone marrow and muscles.
- Daily iron requirements vary from 20mg for adults to 40mg for pregnant women. Absorption is regulated to maintain iron balance in the body.
- Sources of iron include leafy vegetables, pulses, cereals, liver and meat. Absorption is affected by factors like ascorbic acid and interfering substances like phytic acid.
Urea cycle defect hyperammonemia
The document summarizes urea cycle defects and hyperammonemia. It discusses that defects in any of the six urea cycle enzymes or two transporters can cause toxic buildup of ammonia in the blood. Specific urea cycle disorders are described including ornithine transcarbamylase deficiency and N-acetylglutamate synthase deficiency. Treatment focuses on removing ammonia through hemodialysis or drug therapy, and maintaining a protein-restricted diet to prevent further ammonia production. Long-term management requires monitoring amino acid intake and considering liver transplantation.
Metabolic Disorders of Phenylalanine and Tyrosine
Phenylketonuria is caused by a defect in the enzyme phenylalanine hydroxylase, leading to accumulation of phenylalanine. If untreated, it can cause intellectual disability, seizures, and other issues. Tyrosinemia type II results from a defect in tyrosine transaminase, causing tyrosine and metabolite buildup. Neonatal tyrosinemia is temporary and responds to vitamin C. Alkaptonuria is caused by homogentisate oxidase deficiency, allowing homogentisate to accumulate and be excreted in urine, potentially causing joint and organ problems. Tyrosinemia type I involves fumarylacetoacetate hydroxylase deficiency, which can lead to
Purine & pyrimidine metabolism and disorders
Purine & pyrimidine metabolism and disordersInternational Medicine School - Management and Science University
Purine and pyrimidine nucleotides play important roles in the body, including forming DNA and RNA and acting as carriers of energy and active intermediates. There are two pathways for nucleotide synthesis: de novo synthesis starting from metabolic precursors, and salvage pathways that recycle bases from nucleic acid breakdown. IMP is an important intermediate that is converted to AMP and GMP. Defects in purine metabolism can cause disorders like gout, kidney stones, and Lesch-Nyhan syndrome. Orotaciduria is a pyrimidine synthesis disorder caused by a deficiency in orotate-phosphoribosyltransferase.Heme Biosynthesis and Its disorders (Porphyria)
Hemoglobin is a protein in red blood cells that transports oxygen and carbon dioxide throughout the body. It is made up of four subunits, each containing a heme group with iron at its center. Heme biosynthesis is a multi-step pathway that takes place in the mitochondria and cytoplasm, starting from succinyl-CoA and glycine and resulting in protoporphyrin with iron inserted at the final step to form heme. Regulation of heme biosynthesis occurs through feedback inhibition of the rate-limiting enzyme ALA synthase by heme levels. Deficiencies in the heme biosynthesis pathway can cause various types of porphyrias, a group of rare genetic disorders characterized by neurological and skin abnormalities.
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.
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.
Homocystinuria
Homocystinuria is a disorder of methionine metabolism caused by an inability to metabolize homocysteine. There are three main types: classic homocystinuria caused by cystathionine β-synthase deficiency; defects in methylcobalamin formation; and methylenetetrahydrofolate reductase deficiency. Symptoms vary but can include developmental delay, dislocated lenses, skeletal abnormalities, thromboembolism, and intellectual disability. Treatment depends on the type but may include vitamin B6, betaine, folic acid, vitamin B12, methionine supplementation, and dietary restrictions.
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.
Presentation on Inborn errors of metabolism
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without treatment, high phenylalanine levels can cause intellectual disabilities and other neurological problems. Treatment involves a lifelong low-phenylalanine diet using phenylalanine-free medical foods and supplements. Tyrosinemia and Wilson's disease are also inherited disorders of amino acid or copper metabolism that can cause liver, neurological and other health issues if left untreated. Medical nutrition therapy and medication are used to manage symptoms and prevent complications.
10. porphyrin and bile pigments
This document summarizes porphyrin and heme biosynthesis and catabolism. It describes how porphyrins readily bind metal ions like iron to form heme. Heme is the prosthetic group in hemoglobin and other hemeproteins. The liver and bone marrow are the main sites of heme synthesis. Heme is synthesized through a series of reactions starting from glycine and succinyl-CoA, and ending with the insertion of iron into protoporphyrin IX. After 120 days, old red blood cells are broken down by the liver and spleen, releasing heme which is degraded into biliverdin and then bilirubin. Bilirubin is transported to the liver and conjugated for excretion
COPPER METABOLISM
Copper is an essential trace element that is present in all tissues, especially the liver, kidneys, heart and skeletal muscles. It serves as a cofactor for several enzymes involved in processes like iron transport, collagen crosslinking, melanin synthesis and oxidative phosphorylation. Copper deficiency can result in neutropenia, anemia, bone abnormalities and neurological issues. Menkes and Wilson's diseases are genetic disorders of copper metabolism that involve defects in copper transport and result in copper accumulation in tissues.
Disorders of pyrimidine metabolism
This document discusses disorders of pyrimidine metabolism. It provides an overview of pyrimidine synthesis pathways including de novo and salvage pathways. It describes one specific disorder, hereditary orotic aciduria, which is caused by a defect in UMP synthetase, resulting in excess orotic acid excretion. Treatment involves supplementing with UMP, which downregulates the pathway via feedback inhibition. The document contrasts pyrimidine and purine synthesis, regulation, catabolism, and salvage pathways.
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
Urea cycle defects
Urea cycle disorders result from defects in the metabolic pathway that converts nitrogen into urea for excretion. Symptoms range from hyperammonemia in newborns to neurological issues in older patients. Diagnosis involves measuring elevated ammonia levels and testing for specific enzyme deficiencies. Treatment focuses on reducing ammonia through dialysis, nitrogen scavengers, and dietary protein restriction, as well as replacing deficient cycle intermediates. Long term management centers on minimizing nitrogen intake and promoting alternative excretion routes to prevent hyperammonemic crises.
Heme metabolism & jaundice
Heme is an essential prosthetic group that contains iron. It is synthesized through a series of enzymatic reactions starting from glycine and succinyl-CoA. The rate-limiting first step is catalyzed by ALA synthase. Deficiencies in enzymes involved in heme synthesis can cause porphyrias, which are characterized by accumulation of porphyrins or their precursors. Porphyrias can have cutaneous or neurological manifestations depending on the site of accumulation. Bilirubin is a breakdown product of heme catabolism and is conjugated and excreted in bile and feces. Hyperbilirubinemia can occur due to overproduction, defects in conjugation or excretion
Haem metabolism
1. Hemoglobin and other heme-containing proteins are broken down, releasing iron and producing bilirubin, which is conjugated in the liver and excreted in bile and feces.
2. Heme synthesis takes place in the liver and bone marrow and is regulated by negative feedback inhibition by heme.
3. Issues with heme metabolism can cause porphyrias or jaundice in newborns from immature bilirubin conjugation enzymes.
Porphyria
The document summarizes information about Porphyria Cutanea Tarda (PCT), including:
- PCT is the most common type of porphyria, caused by a deficiency in the uroporphyrinogen decarboxylase enzyme leading to elevated porphyrin levels.
- It is more common in males over 40, and risk factors include alcohol use, iron overload, hepatitis C, and certain medications.
- Symptoms include blistering or burning of the skin when exposed to light due to accumulation of water-soluble or lipophilic porphyrins.
- Diagnosis involves ruling out other conditions and confirming elevated porphyrin levels bi
urea-Chemical Pathology
Urea is a waste product produced from the breakdown of proteins in the liver. It is filtered from the blood by the kidneys and excreted in urine. A blood urea nitrogen (BUN) test measures the level of urea in the blood, which indicates how well the kidneys and liver are functioning. Elevated BUN levels suggest the kidneys are damaged and not properly removing waste from the blood, while normal levels show the kidneys and liver are working properly to filter and excrete urea. The BUN test is done to evaluate kidney function and damage, and to monitor dialysis treatment.
Lesson 7.1 inborn errors of metabolism
This document discusses inborn errors of metabolism (IEMs), which are genetic disorders caused by defects in metabolic pathways. It covers:
- Classification of IEMs including disorders of carbohydrate, protein, lipid, and nucleic acid metabolism.
- Presentation of IEMs in newborns including non-specific symptoms like vomiting and seizures.
- Diagnosis through family history, physical exam, and simple lab tests to check for metabolic acidosis.
- Treatment options like dietary restrictions, supplements, and gene therapy depending on the specific IEM.
Urea Cycle Disorders
The urea cycle disorders result from genetic mutations causing defects in the metabolism of extra nitrogen from protein breakdown. There are six enzymes in the urea cycle that convert ammonia into urea for excretion. Deficiencies in the first three enzymes (CPS1, OTC, ASS) or the cofactor NAGS cause severe hyperammonemia in newborns. Symptoms include irritability, lethargy, coma, hypothermia, and seizures. Treatment involves removing protein, giving nitrogen-scavenging drugs like sodium benzoate and sodium phenylacetate, arginine supplementation, and supportive care. Long-term management includes a low-protein diet and monitoring for complications.
Copper metabolism
Copper- sources, daily requirement, absorption, transportation, storage, excretion, role in enzymatic action, role in iron metabolism, role in elastin maturation, role in bone formation, copper deficiency, copper toxicity, Wilson disease, Menkes disease.
Iron metabolism
Iron is an essential micronutrient, but both iron deficiency and excess can be harmful. Iron deficiency anemia affects 65-75% of people in India and can impact growth and development. The body tightly regulates iron levels through absorption in the duodenum, transport by transferrin, and storage in ferritin and hemosiderin. Hepcidin is the key regulator of iron absorption and release, inhibiting the iron exporter ferroportin. Disorders of iron metabolism include iron deficiency anemia, hemosiderosis, and hereditary hemochromatosis.
Heme synthesis & disorders
This document provides information on heme synthesis and disorders of heme synthesis (porphyrias). It describes the 7 step process of heme biosynthesis, which takes place partly in the cytoplasm and mitochondria. The key steps involve the formation of porphobilinogen (PBG), uroporphyrinogen, coproporphyrinogen, protoporphyrinogen, and finally heme through the insertion of iron. Regulation and some specific porphyrias are also outlined, including acute intermittent porphyria, congenital erythropoietic porphyria, porphyria cutanea tarda, hereditary coproporphyria, and variegate porphyria.
cystinuria
s an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
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Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by a deficiency of the enzyme branched-chain keto acid dehydrogenase (BCKDH), which is required to break down the branched-chain amino acids leucine, valine, and isoleucine. This causes an accumulation of these amino acids in the blood and urine, giving urine a characteristic maple syrup smell. MSUD is treated through a carefully controlled diet low in these amino acids and supplementation to maintain metabolic control. Without treatment, MSUD can cause neurological damage and is often fatal within the first month of life.approach to inborn error of metabolism dr.mounika
This document provides an overview of inborn errors of metabolism (IEM). It discusses that IEM have an overall incidence of 1 in 1000 to 1 in 2000 births. The most common presentation is sepsis in 30% of cases. IEM are classified based on the defective metabolic pathway, such as amino acid metabolism defects, carbohydrate metabolism defects, and organic acidemias. Clinical pointers for suspected IEM include deterioration after apparent normalcy, hypoglycemia, metabolic acidosis, abnormal urine odor, and dysmorphic features. Evaluation of neonates involves blood tests, blood gases, glucose and ammonia levels, urine analysis, and plasma amino acid analysis to identify specific disorders. Management involves identifying and limiting the offending substance
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.
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Homocystinuria
Homocystinuria is a disorder of methionine metabolism caused by an inability to metabolize homocysteine. There are three main types: classic homocystinuria caused by cystathionine β-synthase deficiency; defects in methylcobalamin formation; and methylenetetrahydrofolate reductase deficiency. Symptoms vary but can include developmental delay, dislocated lenses, skeletal abnormalities, thromboembolism, and intellectual disability. Treatment depends on the type but may include vitamin B6, betaine, folic acid, vitamin B12, methionine supplementation, and dietary restrictions.
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.
Presentation on Inborn errors of metabolism
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without treatment, high phenylalanine levels can cause intellectual disabilities and other neurological problems. Treatment involves a lifelong low-phenylalanine diet using phenylalanine-free medical foods and supplements. Tyrosinemia and Wilson's disease are also inherited disorders of amino acid or copper metabolism that can cause liver, neurological and other health issues if left untreated. Medical nutrition therapy and medication are used to manage symptoms and prevent complications.
10. porphyrin and bile pigments
This document summarizes porphyrin and heme biosynthesis and catabolism. It describes how porphyrins readily bind metal ions like iron to form heme. Heme is the prosthetic group in hemoglobin and other hemeproteins. The liver and bone marrow are the main sites of heme synthesis. Heme is synthesized through a series of reactions starting from glycine and succinyl-CoA, and ending with the insertion of iron into protoporphyrin IX. After 120 days, old red blood cells are broken down by the liver and spleen, releasing heme which is degraded into biliverdin and then bilirubin. Bilirubin is transported to the liver and conjugated for excretion
COPPER METABOLISM
Copper is an essential trace element that is present in all tissues, especially the liver, kidneys, heart and skeletal muscles. It serves as a cofactor for several enzymes involved in processes like iron transport, collagen crosslinking, melanin synthesis and oxidative phosphorylation. Copper deficiency can result in neutropenia, anemia, bone abnormalities and neurological issues. Menkes and Wilson's diseases are genetic disorders of copper metabolism that involve defects in copper transport and result in copper accumulation in tissues.
Disorders of pyrimidine metabolism
This document discusses disorders of pyrimidine metabolism. It provides an overview of pyrimidine synthesis pathways including de novo and salvage pathways. It describes one specific disorder, hereditary orotic aciduria, which is caused by a defect in UMP synthetase, resulting in excess orotic acid excretion. Treatment involves supplementing with UMP, which downregulates the pathway via feedback inhibition. The document contrasts pyrimidine and purine synthesis, regulation, catabolism, and salvage pathways.
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
Urea cycle defects
Urea cycle disorders result from defects in the metabolic pathway that converts nitrogen into urea for excretion. Symptoms range from hyperammonemia in newborns to neurological issues in older patients. Diagnosis involves measuring elevated ammonia levels and testing for specific enzyme deficiencies. Treatment focuses on reducing ammonia through dialysis, nitrogen scavengers, and dietary protein restriction, as well as replacing deficient cycle intermediates. Long term management centers on minimizing nitrogen intake and promoting alternative excretion routes to prevent hyperammonemic crises.
Heme metabolism & jaundice
Heme is an essential prosthetic group that contains iron. It is synthesized through a series of enzymatic reactions starting from glycine and succinyl-CoA. The rate-limiting first step is catalyzed by ALA synthase. Deficiencies in enzymes involved in heme synthesis can cause porphyrias, which are characterized by accumulation of porphyrins or their precursors. Porphyrias can have cutaneous or neurological manifestations depending on the site of accumulation. Bilirubin is a breakdown product of heme catabolism and is conjugated and excreted in bile and feces. Hyperbilirubinemia can occur due to overproduction, defects in conjugation or excretion
Haem metabolism
1. Hemoglobin and other heme-containing proteins are broken down, releasing iron and producing bilirubin, which is conjugated in the liver and excreted in bile and feces.
2. Heme synthesis takes place in the liver and bone marrow and is regulated by negative feedback inhibition by heme.
3. Issues with heme metabolism can cause porphyrias or jaundice in newborns from immature bilirubin conjugation enzymes.
Porphyria
The document summarizes information about Porphyria Cutanea Tarda (PCT), including:
- PCT is the most common type of porphyria, caused by a deficiency in the uroporphyrinogen decarboxylase enzyme leading to elevated porphyrin levels.
- It is more common in males over 40, and risk factors include alcohol use, iron overload, hepatitis C, and certain medications.
- Symptoms include blistering or burning of the skin when exposed to light due to accumulation of water-soluble or lipophilic porphyrins.
- Diagnosis involves ruling out other conditions and confirming elevated porphyrin levels bi
urea-Chemical Pathology
Urea is a waste product produced from the breakdown of proteins in the liver. It is filtered from the blood by the kidneys and excreted in urine. A blood urea nitrogen (BUN) test measures the level of urea in the blood, which indicates how well the kidneys and liver are functioning. Elevated BUN levels suggest the kidneys are damaged and not properly removing waste from the blood, while normal levels show the kidneys and liver are working properly to filter and excrete urea. The BUN test is done to evaluate kidney function and damage, and to monitor dialysis treatment.
Lesson 7.1 inborn errors of metabolism
This document discusses inborn errors of metabolism (IEMs), which are genetic disorders caused by defects in metabolic pathways. It covers:
- Classification of IEMs including disorders of carbohydrate, protein, lipid, and nucleic acid metabolism.
- Presentation of IEMs in newborns including non-specific symptoms like vomiting and seizures.
- Diagnosis through family history, physical exam, and simple lab tests to check for metabolic acidosis.
- Treatment options like dietary restrictions, supplements, and gene therapy depending on the specific IEM.
Urea Cycle Disorders
The urea cycle disorders result from genetic mutations causing defects in the metabolism of extra nitrogen from protein breakdown. There are six enzymes in the urea cycle that convert ammonia into urea for excretion. Deficiencies in the first three enzymes (CPS1, OTC, ASS) or the cofactor NAGS cause severe hyperammonemia in newborns. Symptoms include irritability, lethargy, coma, hypothermia, and seizures. Treatment involves removing protein, giving nitrogen-scavenging drugs like sodium benzoate and sodium phenylacetate, arginine supplementation, and supportive care. Long-term management includes a low-protein diet and monitoring for complications.
Copper metabolism
Copper- sources, daily requirement, absorption, transportation, storage, excretion, role in enzymatic action, role in iron metabolism, role in elastin maturation, role in bone formation, copper deficiency, copper toxicity, Wilson disease, Menkes disease.
Iron metabolism
Iron is an essential micronutrient, but both iron deficiency and excess can be harmful. Iron deficiency anemia affects 65-75% of people in India and can impact growth and development. The body tightly regulates iron levels through absorption in the duodenum, transport by transferrin, and storage in ferritin and hemosiderin. Hepcidin is the key regulator of iron absorption and release, inhibiting the iron exporter ferroportin. Disorders of iron metabolism include iron deficiency anemia, hemosiderosis, and hereditary hemochromatosis.
Heme synthesis & disorders
This document provides information on heme synthesis and disorders of heme synthesis (porphyrias). It describes the 7 step process of heme biosynthesis, which takes place partly in the cytoplasm and mitochondria. The key steps involve the formation of porphobilinogen (PBG), uroporphyrinogen, coproporphyrinogen, protoporphyrinogen, and finally heme through the insertion of iron. Regulation and some specific porphyrias are also outlined, including acute intermittent porphyria, congenital erythropoietic porphyria, porphyria cutanea tarda, hereditary coproporphyria, and variegate porphyria.
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s an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder.
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Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by a deficiency of the enzyme branched-chain keto acid dehydrogenase (BCKDH), which is required to break down the branched-chain amino acids leucine, valine, and isoleucine. This causes an accumulation of these amino acids in the blood and urine, giving urine a characteristic maple syrup smell. MSUD is treated through a carefully controlled diet low in these amino acids and supplementation to maintain metabolic control. Without treatment, MSUD can cause neurological damage and is often fatal within the first month of life.What's hot (20)
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Similar to PPT II Disorders associated with nucleotides metabolism.pptx
approach to inborn error of metabolism dr.mounika
This document provides an overview of inborn errors of metabolism (IEM). It discusses that IEM have an overall incidence of 1 in 1000 to 1 in 2000 births. The most common presentation is sepsis in 30% of cases. IEM are classified based on the defective metabolic pathway, such as amino acid metabolism defects, carbohydrate metabolism defects, and organic acidemias. Clinical pointers for suspected IEM include deterioration after apparent normalcy, hypoglycemia, metabolic acidosis, abnormal urine odor, and dysmorphic features. Evaluation of neonates involves blood tests, blood gases, glucose and ammonia levels, urine analysis, and plasma amino acid analysis to identify specific disorders. Management involves identifying and limiting the offending substance
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.
Inborn errors of protein metabolism
Inborn errors of protein metabolism occur from genetic disorders that cause defects in enzymes involved in biochemical pathways that break down food components normally. Some key points:
1. Genetic disorders are categorized as chromosomal, monogenic, or complex/multifactorial disorders. Inborn errors of metabolism fall under monogenic disorders caused by single gene defects.
2. Examples of inborn errors include disorders of the urea cycle like ornithine transcarbamylase deficiency and disorders of amino acid metabolism like phenylketonuria, alkaptonuria, and maple syrup urine disease.
3. Symptoms of newborns with urea cycle defects include lethargy, coma, seizures,
Uric acid
A 45-year-old man awoke with a painful and swollen right great toe after eating fried liver and drinking beer the night before. His uric acid level was elevated at 8.0 mg/dl, above the normal range. Both his father and grandfather, who were alcoholics, often had joint pain and swelling in their feet. The man likely has gouty arthritis, which is caused by elevated uric acid levels and is known to be associated with alcohol consumption and genetic predisposition.
Approach to inborn error of metabolism
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Lecture 3. Metabolism of purines & pyrimidines 20 Aug 21.ppt
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Inborn error of metabolism
Inborn errors of metabolism are caused by single gene mutations that alter protein structure or amount synthesized. They can range from mild to lethal. Most are autosomal recessive but some like ornithine transcarbamylase deficiency are X-linked. Metabolic disorders are classified by clinical presentation, age of onset, tissues involved, and defective pathways. Common types include amino acid disorders, organic acidurias, lysosomal storage disorders, and fatty acid oxidation defects. Treatment approaches include restricting intake of toxic substances, increasing excretion of metabolites, enzyme replacement therapy, substrate reduction, and transplantation.
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It is the most common autosomal recessive genetic disorder and the most common cause of severe iron overload.
In hereditary hemochromatosis regulation of intestinal absorption of dietary iron is abnormal leading to net iron accumulation of 0.5 to 1gm/yr.
Genetic polymorphism in drug metabolism
Section 'a' of last chapter in Clinical Pharmacokinetics and Phrmacotherapeutic Drug Monitoring. This is useful for 5th year PHARM D students.
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Haematopoetic agents
This document provides an overview of hematopoietic growth factors and hematinics. It discusses iron, folic acid, vitamin B12, and various growth factors that stimulate red blood cell, white blood cell, and platelet production. These include erythropoietin, G-CSF, GM-CSF, IL-11, and romiplostim. The document covers the chemistry, mechanisms of action, indications, and side effects of these substances used to treat anemia and thrombocytopenia.
Disorders of haem synthesis
1. Sideroblastic anemias are a group of refractory anemias characterized by ring sideroblasts in the bone marrow, which are iron-containing erythroblasts.
2. Hereditary sideroblastic anemias are rare, often manifesting in males in childhood or adolescence. They can be caused by mutations in genes involved in iron-sulfur cluster formation or heme synthesis.
3. Acquired sideroblastic anemias have various causes including drugs, toxins, myelodysplastic syndromes, and other hematological malignancies.
Disorders of haem synthesis
1. Sideroblastic anemias are a group of refractory anemias characterized by ring sideroblasts in the bone marrow, which are iron-containing erythroblasts.
2. Hereditary sideroblastic anemias are rare, often manifesting in males in childhood or adolescence. They can be caused by mutations in genes involved in iron-sulfur cluster formation or heme synthesis.
3. Acquired sideroblastic anemias have various causes including drugs, toxins, myelodysplastic syndromes, and other hematological malignancies.
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.
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Lecture 3. Metabolism of purines & pyrimidines 20 Aug 21.ppt
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- 1. Disorders of nucleotide metabolism Disorders of Purine Metabolism Disorders of Pyrimidine Metabolism
- 2. Disorders of Purine Metabolism • Common abnormality is an elevation of uric acid level in blood, referred to as hyperuricemia. • It is defined as serum uric acid concentration exceeding 7 mg/dl in male and 6 mg/dl in female. • It may or may not be associated with increased excretion of uric acid in urine, which condition is called uricosuria 1. Gout 2. Hypouricemia(Adenosine Deaminase (ADA) Deficiency) De novo pathway 3. Nucleoside phosphorylase deficiency 4. Xanthinuria:-Xanthine Oxidase Deficiency 1. Lesch-Nyhan Syndrome salvage pathway
- 4. Lesch-Nyhan Syndrome • It is an X-linked inherited disorder of purine metabolism. • Incidence is 1:10,000 males. • There is deficiency of HGPRTase. • The rate of salvage pathway is decreased resulting in accumulation of PRPP and decreased level of inhibitory purine nucleotides. • The disease is characterized by self mutilation, mental retardation, excessive uric acid and nephro-lithiasis. • Gout develops in later life NOTE: The neurological manifestations suggest that the brain is dependent on the salvage pathway for the requirements of IMP and GMP
- 5. TASK III Students to read and make notes Types and causes of gout Treatments
- 6. Disorders of Pyrimidine Metabolism
- 7. Orotic Aciduria It is of 2 types: -Type I orotic aciduria -Type II orotic aciduria Type I orotic aciduria:- It is an autosomal recessive genetic disorder • Genetic disorder of a protein acting as both orotate phosphoribosyl transferase and OMP decarboxylase. • Orotate fails to be converted to uridylate. • Results in accumulation of orotate in blood elevating its level, growth retardation and megaloblastic anaemia
- 8. Type II orotic aciduria • It is autosomal recessive, affecting OMP decarboxylase • It is characterized by megaloblastic anaemia • There is urinary excretion of a sididine in higher concentrations than orotate
- 9. TASK III Students to read and make notes on Other Causes of Orotic Aciduria
- 10. Anticancer Agents Acting on Pyrimidines • Methotrexate inhibits dihydrofolate reductase and thereby reduces the regeneration of THFA • 5-fluoro-uracil, 5-iodo uracil, 3-deoxy uridine, 6-aza uridine, 6-aza cytidine and 5-iodo-2-deoxyuridine. The drugs competitively inhibit thymidylate synthase. • Cytosine arabinoside where ribose is replaced by arabinose