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This document discusses the approach to diagnosing and managing inborn errors of metabolism in neonates presenting with non-specific signs and symptoms. It outlines common signs and symptoms of IEMs including respiratory, cardiac, gastrointestinal, and neurological issues. It describes categories of IEMs and how to recognize metabolic acidosis, hyperammonemia, and hypoglycemia as presentation of underlying IEMs. Initial management involves stabilizing the patient through treatments like sodium bicarbonate, removing organic acids and ammonia through hemodialysis, and providing carnitine supplementation. Specific disorders discussed include organic acidemias and urea cycle disorders. Long term treatment depends on the specific diagnosed IEM and involves dietary management, medication
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inborn error of metabolism
This document discusses the diagnosis and management of inborn errors of metabolism (IEM) in neonates. Key points include:
- IEM are individually rare but collectively affect about 1 in 5,000 live births.
- Presentation can range from gradual to sudden to catastrophic and may mimic other conditions like infection.
- Initial labs should check for metabolic acidosis, hyperammonemia, and hypoglycemia to help identify treatable disorders.
- Life-threatening conditions require stabilizing the neonate before identifying the specific IEM through additional tests and specialist consultation. Management aims to correct acidosis/electrolytes, provide calories, remove toxic metabolites, and treat any underlying precipitants
Approach to inborn error of metabolism
basic idea regarding different IEM, when to suspect it and approach to common IEM algorhythm wise. adopted and compiled from aiims protocol 2014
Inborn error of metabolism
This document discusses inherited metabolic disorders (IMDs), also known as inborn errors of metabolism. IMDs are caused by enzyme deficiencies that disrupt normal metabolism, leading to the accumulation of toxic substrates. Common symptoms include neurological deterioration, metabolic acidosis, hypoglycemia, and more. The document focuses on phenylketonuria (PKU) and galactosemia as examples. PKU is caused by a lack of the enzyme phenylalanine hydroxylase, causing phenylalanine to accumulate and damage the brain if left untreated. Galactosemia results from a lack of the GALT enzyme, causing galactose toxicity if dairy is consumed. Both require life-long dietary restrictions to restrict intake of
Inborn errors of metabolism
Inborn errors of metabolism- focusing on its predominant adult onset forms, neurological perspective, clinical & biochemical approach to diagnosis, and neuroimaging findings.
approach to Inborn Errors of Metabolism in neonates
This document provides an overview of inborn errors of metabolism (IEM), including clinical pointers, initial evaluations, and management. Some key points:
- IEM should be considered in the differential diagnosis of any sick neonate. Clinical pointers include deterioration after normalcy, parental consanguinity, unexplained encephalopathy/seizures, or metabolic acidosis.
- Initial evaluations include blood tests for electrolytes, gases, glucose, ammonia, lactate, liver/kidney function, urine tests. Further tests may include plasma amino acids, acylcarnitines, organic acids if indicated.
- Common presentations are neurologic deterioration with metabolic acidosis, hypoglycemia, or hyper
Inborn errors of metabolism
This document discusses inborn errors of metabolism, which are inherited disorders caused by defects in metabolic enzyme pathways. It provides details on the presentation, evaluation, differential diagnosis, emergency treatment and management of several specific metabolic conditions. Key points include: inborn errors can present from infancy to adulthood; evaluation involves medical history, physical exam and laboratory tests; treatment focuses on stabilizing the patient, identifying and eliminating toxic metabolites, and providing supportive care and diet management. Congenital adrenal hyperplasia is discussed as an example of an inborn error presenting as an adrenal crisis in infants.
Inborn error of metabolism ( Prenatal & Newborn Screening )
This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Inbornerrorsofmetabolism
The document provides an overview of inborn errors of metabolism (IEM), including approaches to diagnosis and management. IEM are usually caused by single gene defects that block metabolic pathways, leading to substrate accumulation or product deficiency. Clinical presentation can vary from mild to severe and affect any organ system. Diagnosis involves considering IEM in cases involving unexplained illness, and testing electrolytes, ammonia, lactate, amino acids, and organic acids. Broad management focuses on treating acidosis, hypoglycemia, and hyperammonemia. Specific treatments aim to restrict enzyme substrates or provide missing enzymes or cofactors. Certain IEM are associated with distinctive physical findings, odors, or neurological symptoms.
Recommended
inborn error of metabolism
This document discusses the diagnosis and management of inborn errors of metabolism (IEM) in neonates. Key points include:
- IEM are individually rare but collectively affect about 1 in 5,000 live births.
- Presentation can range from gradual to sudden to catastrophic and may mimic other conditions like infection.
- Initial labs should check for metabolic acidosis, hyperammonemia, and hypoglycemia to help identify treatable disorders.
- Life-threatening conditions require stabilizing the neonate before identifying the specific IEM through additional tests and specialist consultation. Management aims to correct acidosis/electrolytes, provide calories, remove toxic metabolites, and treat any underlying precipitants
Approach to inborn error of metabolism
basic idea regarding different IEM, when to suspect it and approach to common IEM algorhythm wise. adopted and compiled from aiims protocol 2014
Inborn error of metabolism
This document discusses inherited metabolic disorders (IMDs), also known as inborn errors of metabolism. IMDs are caused by enzyme deficiencies that disrupt normal metabolism, leading to the accumulation of toxic substrates. Common symptoms include neurological deterioration, metabolic acidosis, hypoglycemia, and more. The document focuses on phenylketonuria (PKU) and galactosemia as examples. PKU is caused by a lack of the enzyme phenylalanine hydroxylase, causing phenylalanine to accumulate and damage the brain if left untreated. Galactosemia results from a lack of the GALT enzyme, causing galactose toxicity if dairy is consumed. Both require life-long dietary restrictions to restrict intake of
Inborn errors of metabolism
Inborn errors of metabolism- focusing on its predominant adult onset forms, neurological perspective, clinical & biochemical approach to diagnosis, and neuroimaging findings.
approach to Inborn Errors of Metabolism in neonates
This document provides an overview of inborn errors of metabolism (IEM), including clinical pointers, initial evaluations, and management. Some key points:
- IEM should be considered in the differential diagnosis of any sick neonate. Clinical pointers include deterioration after normalcy, parental consanguinity, unexplained encephalopathy/seizures, or metabolic acidosis.
- Initial evaluations include blood tests for electrolytes, gases, glucose, ammonia, lactate, liver/kidney function, urine tests. Further tests may include plasma amino acids, acylcarnitines, organic acids if indicated.
- Common presentations are neurologic deterioration with metabolic acidosis, hypoglycemia, or hyper
Inborn errors of metabolism
This document discusses inborn errors of metabolism, which are inherited disorders caused by defects in metabolic enzyme pathways. It provides details on the presentation, evaluation, differential diagnosis, emergency treatment and management of several specific metabolic conditions. Key points include: inborn errors can present from infancy to adulthood; evaluation involves medical history, physical exam and laboratory tests; treatment focuses on stabilizing the patient, identifying and eliminating toxic metabolites, and providing supportive care and diet management. Congenital adrenal hyperplasia is discussed as an example of an inborn error presenting as an adrenal crisis in infants.
Inborn error of metabolism ( Prenatal & Newborn Screening )
This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Inbornerrorsofmetabolism
The document provides an overview of inborn errors of metabolism (IEM), including approaches to diagnosis and management. IEM are usually caused by single gene defects that block metabolic pathways, leading to substrate accumulation or product deficiency. Clinical presentation can vary from mild to severe and affect any organ system. Diagnosis involves considering IEM in cases involving unexplained illness, and testing electrolytes, ammonia, lactate, amino acids, and organic acids. Broad management focuses on treating acidosis, hypoglycemia, and hyperammonemia. Specific treatments aim to restrict enzyme substrates or provide missing enzymes or cofactors. Certain IEM are associated with distinctive physical findings, odors, or neurological symptoms.
Organic Acidemias Didactic Bb Day1 3 Jh
Organic acidemias are a group of disorders characterized by excess excretion of non-amino organic acids in urine due to defects in amino acid metabolism. Common presentations include acute overwhelming illness in neonates or recurrent metabolic crises in infants leading to developmental delay, seizures, and dystonia or choreoathetosis. Symptoms represent toxic encephalopathy and include lethargy, coma, vomiting, and seizures. Laboratory findings include metabolic acidosis, ketosis, and elevated organic acids in urine. Examples of organic acidemias with typical presentations are methylmalonic acidemia, propionic acidemia, and isovaleric acidemia.
Overview of Inborn errors of metabolism
Inborn errors of metabolism - metabolic aspects and investigations for medical students and practitioners
Inborn Errors of Metabolism
Approach to Inborn Errors of Metabolism for an Endocrinologist. Presented at ESICON 2018 in Bhubnewshwar.
Inborn error of metabolism
IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
Approach to Inborn Errors of Metabolism .. Dr.Padmesh
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
Inborn errors of metabolism
This document discusses inborn errors of amino acid metabolism. It begins by defining inborn errors of metabolism as inherited metabolic disorders caused by enzymatic defects present from birth. It then discusses several specific inborn errors of amino acid metabolism, including phenylketonuria (PKU), alkaptonuria, tyrosinemia, and albinism. For each, it provides a brief overview of causes, symptoms, diagnosis, and treatment. The document concludes by discussing additional inborn errors of amino acid metabolism such as urea cycle defects, homocystinuria, maple syrup urine disease, hyperprolinemia, nonketotic hyperglycinemia, hyperoxaluria, and glycinuria.
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.
Inborn errors of metabolism
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
Metabolic inborn errors
This document provides information on various metabolic inborn errors including phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, galactosemia, glycogen storage diseases, and Niemann-Pick disease. It defines metabolic inborn errors as disorders caused by single gene defects that block metabolism. For each condition, it describes the genetic cause, signs and symptoms, diagnosis, and treatment. The document is presented as part of a biochemistry assignment on metabolic inborn errors for a health sciences university in Central America.
Inborn errors of metabolism
This document discusses two inborn errors of metabolism: phenylketonuria (PKU) and alkaptonuria. PKU is caused by a genetic defect that prevents the breakdown of phenylalanine, causing intellectual disability if not treated. Symptoms range from mild to severe. It is diagnosed through newborn screening and treated through a phenylalanine-free diet and medications. Alkaptonuria is a rare disorder caused by the inability to break down homogentisic acid, leading to dark pigmentation of tissues over time and arthritis. Both are inherited in an autosomal recessive pattern.
Inborn errors of metabolism
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
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.
Inborn error of metabolism
This document discusses several inborn errors of metabolism, including disorders of carbohydrate metabolism, lipid metabolism, and amino acid metabolism. Galactosemia results from a loss of the galactose-1-phosphate uridyl transferase enzyme and causes vomiting, diarrhea, and failure to thrive in infants ingesting milk. Glycogen storage diseases are caused by defects in glycogen breakdown/formation enzymes. Lysosomal storage diseases involve defects in lysosomal enzymes, impairing lipid breakdown and causing diverse symptoms like mental retardation. Phenylketonuria is an autosomal recessive disorder causing high phenylalanine levels and mental retardation if untreated with a low-phenylalanine diet. Homocystinuria involves cystathion
Genetic Disorder (Inborn error of Metabolism)
This presentation summarizes information on 4 genetic disorders: fructose intolerance, phenylketonuria, alkaptonuria, and glycogen storage disease. It defines each disorder, explains their genetic and biochemical basis, clinical manifestations including symptoms and diagnosis, current treatment approaches, and potential future research directions. For each disorder, the presentation provides details on defective enzymes or genes involved, metabolic pathways impacted, and statistics on prevalence. It aims to enhance understanding of these inborn errors of metabolism.
Inborn errors of metabolism
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
Inborn errors of metabolism
This document provides information on inborn errors of purine and pyrimidine metabolism. It defines key enzymes involved in purine degradation and salvage pathways such as adenine phosphoribosyltransferase, hypoxanthine-guanine phosphoribosyltransferase, purine nucleoside phosphorylase, and adenosine deaminase. It also discusses disorders that result from defects in these enzymes, including the causes and effects of lesions in the purine nucleotide cycle. Additionally, it describes uric acid formation from hypoxanthine and xanthine, and the role of the UMP synthase complex in pyrimidine synthesis. Overall, the document outlines the normal metabolic pathways of
Inborn errors of metabolism revision notes
1. The document discusses various inborn errors of metabolism (IEM) including those affecting amino acid metabolism, organic aciduria, urea cycle disorders, and other conditions like alkaptonuria and albinism.
2. Common clinical features of IEM include vomiting, poor feeding, lethargy, seizures, and metabolic acidosis. Diagnosis involves newborn screening tests and characteristic laboratory findings in blood and urine.
3. Treatment depends on the specific IEM but may include dietary modifications such as protein restriction, supplementation with vitamins and cofactors, ammonia scavengers for urea cycle disorders, and dialysis in severe cases.
inborn error of metabolism
Inborn errors of metabolism are rare genetic disorders where the body cannot properly break down food into energy due to defects in enzymes. Phenylketonuria is provided as an example, where a defect in the enzyme phenylalanine hydroxylase prevents the breakdown of phenylalanine, causing it to accumulate to toxic levels and resulting in issues like intellectual disability if left untreated. Treatment involves a low-phenylalanine diet from infancy onwards.
Iems
This document provides an overview of metabolic diseases in children. It begins by defining inborn errors of metabolism and their causes. The document then discusses patterns of inheritance and classifications of different types of metabolic diseases affecting amino acid, carbohydrate, lipid, and protein metabolism. Signs and symptoms of various metabolic diseases are outlined. The document concludes by covering investigations and treatment approaches for metabolic diseases in children.
Aminoaciduria and organic aciduria in neurology
aminoaciduria and organic aciduria are considered as important disorder in the group of inborn error of metabolism.
Acute and chronic hyperammonemia modulate antioxidant
1) The study examines the effects of acute and chronic hyperammonemia on antioxidant enzyme levels and oxidative damage in the cerebral cortex and cerebellum of rats.
2) Acute hyperammonemia decreased antioxidant enzyme levels in both brain regions but increased lipid peroxidation only in the cerebellum.
3) Chronic hyperammonemia increased antioxidant enzyme levels in the cerebral cortex but decreased levels in the cerebellum, suggesting the cerebellum is more susceptible to oxidative stress during chronic hyperammonemia.
Hyperamonimea
Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood. Ammonia is normally produced and excreted by the liver through the urea cycle. Primary hyperammonemia is caused by deficiencies in urea cycle enzymes, while secondary hyperammonemia can be caused by other metabolic disorders or liver/kidney dysfunction. Symptoms range from lethargy and vomiting in neonates to intellectual impairment and seizures later in life. Treatment focuses on reducing ammonia levels through dietary changes, medications to increase nitrogen excretion, and in severe cases dialysis or liver transplantation.
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Organic Acidemias Didactic Bb Day1 3 Jh
Organic acidemias are a group of disorders characterized by excess excretion of non-amino organic acids in urine due to defects in amino acid metabolism. Common presentations include acute overwhelming illness in neonates or recurrent metabolic crises in infants leading to developmental delay, seizures, and dystonia or choreoathetosis. Symptoms represent toxic encephalopathy and include lethargy, coma, vomiting, and seizures. Laboratory findings include metabolic acidosis, ketosis, and elevated organic acids in urine. Examples of organic acidemias with typical presentations are methylmalonic acidemia, propionic acidemia, and isovaleric acidemia.
Overview of Inborn errors of metabolism
Inborn errors of metabolism - metabolic aspects and investigations for medical students and practitioners
Inborn Errors of Metabolism
Approach to Inborn Errors of Metabolism for an Endocrinologist. Presented at ESICON 2018 in Bhubnewshwar.
Inborn error of metabolism
IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
Approach to Inborn Errors of Metabolism .. Dr.Padmesh
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
Inborn errors of metabolism
This document discusses inborn errors of amino acid metabolism. It begins by defining inborn errors of metabolism as inherited metabolic disorders caused by enzymatic defects present from birth. It then discusses several specific inborn errors of amino acid metabolism, including phenylketonuria (PKU), alkaptonuria, tyrosinemia, and albinism. For each, it provides a brief overview of causes, symptoms, diagnosis, and treatment. The document concludes by discussing additional inborn errors of amino acid metabolism such as urea cycle defects, homocystinuria, maple syrup urine disease, hyperprolinemia, nonketotic hyperglycinemia, hyperoxaluria, and glycinuria.
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.
Inborn errors of metabolism
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
Metabolic inborn errors
This document provides information on various metabolic inborn errors including phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, galactosemia, glycogen storage diseases, and Niemann-Pick disease. It defines metabolic inborn errors as disorders caused by single gene defects that block metabolism. For each condition, it describes the genetic cause, signs and symptoms, diagnosis, and treatment. The document is presented as part of a biochemistry assignment on metabolic inborn errors for a health sciences university in Central America.
Inborn errors of metabolism
This document discusses two inborn errors of metabolism: phenylketonuria (PKU) and alkaptonuria. PKU is caused by a genetic defect that prevents the breakdown of phenylalanine, causing intellectual disability if not treated. Symptoms range from mild to severe. It is diagnosed through newborn screening and treated through a phenylalanine-free diet and medications. Alkaptonuria is a rare disorder caused by the inability to break down homogentisic acid, leading to dark pigmentation of tissues over time and arthritis. Both are inherited in an autosomal recessive pattern.
Inborn errors of metabolism
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
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.
Inborn error of metabolism
This document discusses several inborn errors of metabolism, including disorders of carbohydrate metabolism, lipid metabolism, and amino acid metabolism. Galactosemia results from a loss of the galactose-1-phosphate uridyl transferase enzyme and causes vomiting, diarrhea, and failure to thrive in infants ingesting milk. Glycogen storage diseases are caused by defects in glycogen breakdown/formation enzymes. Lysosomal storage diseases involve defects in lysosomal enzymes, impairing lipid breakdown and causing diverse symptoms like mental retardation. Phenylketonuria is an autosomal recessive disorder causing high phenylalanine levels and mental retardation if untreated with a low-phenylalanine diet. Homocystinuria involves cystathion
Genetic Disorder (Inborn error of Metabolism)
This presentation summarizes information on 4 genetic disorders: fructose intolerance, phenylketonuria, alkaptonuria, and glycogen storage disease. It defines each disorder, explains their genetic and biochemical basis, clinical manifestations including symptoms and diagnosis, current treatment approaches, and potential future research directions. For each disorder, the presentation provides details on defective enzymes or genes involved, metabolic pathways impacted, and statistics on prevalence. It aims to enhance understanding of these inborn errors of metabolism.
Inborn errors of metabolism
An inherited enzyme deficiency leading to the disruption of normal bodily metabolism.
Accumulation of a toxic substrate.
Impaired formation of a product normally produced by the deficient enzyme.
Inborn errors of metabolism
This document provides information on inborn errors of purine and pyrimidine metabolism. It defines key enzymes involved in purine degradation and salvage pathways such as adenine phosphoribosyltransferase, hypoxanthine-guanine phosphoribosyltransferase, purine nucleoside phosphorylase, and adenosine deaminase. It also discusses disorders that result from defects in these enzymes, including the causes and effects of lesions in the purine nucleotide cycle. Additionally, it describes uric acid formation from hypoxanthine and xanthine, and the role of the UMP synthase complex in pyrimidine synthesis. Overall, the document outlines the normal metabolic pathways of
Inborn errors of metabolism revision notes
1. The document discusses various inborn errors of metabolism (IEM) including those affecting amino acid metabolism, organic aciduria, urea cycle disorders, and other conditions like alkaptonuria and albinism.
2. Common clinical features of IEM include vomiting, poor feeding, lethargy, seizures, and metabolic acidosis. Diagnosis involves newborn screening tests and characteristic laboratory findings in blood and urine.
3. Treatment depends on the specific IEM but may include dietary modifications such as protein restriction, supplementation with vitamins and cofactors, ammonia scavengers for urea cycle disorders, and dialysis in severe cases.
inborn error of metabolism
Inborn errors of metabolism are rare genetic disorders where the body cannot properly break down food into energy due to defects in enzymes. Phenylketonuria is provided as an example, where a defect in the enzyme phenylalanine hydroxylase prevents the breakdown of phenylalanine, causing it to accumulate to toxic levels and resulting in issues like intellectual disability if left untreated. Treatment involves a low-phenylalanine diet from infancy onwards.
Iems
This document provides an overview of metabolic diseases in children. It begins by defining inborn errors of metabolism and their causes. The document then discusses patterns of inheritance and classifications of different types of metabolic diseases affecting amino acid, carbohydrate, lipid, and protein metabolism. Signs and symptoms of various metabolic diseases are outlined. The document concludes by covering investigations and treatment approaches for metabolic diseases in children.
Aminoaciduria and organic aciduria in neurology
aminoaciduria and organic aciduria are considered as important disorder in the group of inborn error of metabolism.
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Approach to Inborn Errors of Metabolism .. Dr.Padmesh
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1) The study examines the effects of acute and chronic hyperammonemia on antioxidant enzyme levels and oxidative damage in the cerebral cortex and cerebellum of rats.
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3) Chronic hyperammonemia increased antioxidant enzyme levels in the cerebral cortex but decreased levels in the cerebellum, suggesting the cerebellum is more susceptible to oxidative stress during chronic hyperammonemia.
Hyperamonimea
Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood. Ammonia is normally produced and excreted by the liver through the urea cycle. Primary hyperammonemia is caused by deficiencies in urea cycle enzymes, while secondary hyperammonemia can be caused by other metabolic disorders or liver/kidney dysfunction. Symptoms range from lethargy and vomiting in neonates to intellectual impairment and seizures later in life. Treatment focuses on reducing ammonia levels through dietary changes, medications to increase nitrogen excretion, and in severe cases dialysis or liver transplantation.
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A malária é causada por parasitas do gênero Plasmodium transmitidos pela picada de mosquitos infectados do gênero Anopheles. A doença causa problemas de saúde e econômicos em todo o mundo, especialmente na Amazônia brasileira. Os principais sintomas incluem febre que se repete a intervalos regulares dependendo da espécie de Plasmodium. O diagnóstico é feito por exame de sangue e o tratamento envolve medicamentos como a quinina e a cloroquina.
Malaria powerpoint
Malaria is caused by parasites of the Plasmodium type, which are transmitted via the bites of infected Anopheles mosquitoes. The parasites multiply in the liver and then infect red blood cells. Symptoms of malaria include fever, chills, and flu-like illness. Malaria most commonly occurs in subtropical and tropical areas of Africa, Asia, and South America. While the disease can be treated with antimalarial drugs, prevention through mosquito bite avoidance and antimalarial prophylaxis is most effective.
Urea cycle and its disorders
This ppt explains the source of Ammonia, Urea formation in liver, the inborn errors associated with urea cycle in detail.
Emergency management of metabolic crisis
1) Inborn errors of metabolism (IEMs) are individually rare genetic disorders that collectively have an incidence of 1 in 800 to 1 in 5000 births.
2) Clinicians face the difficult challenge of knowing when to consider IEMs in the differential diagnosis and which tests to order for evaluation.
3) Other diagnoses like sepsis, intracranial hemorrhage, and pulmonary hemorrhage may accompany IEMs, so they should not be ruled out prematurely.
4) Clues to the presence of an IEM can often be found in the family history and presentation of rapid deterioration in an otherwise well infant.
Malaria treatment guideline 2012
1. Malaria is a life-threatening tropical disease caused by Plasmodium parasites transmitted via mosquito bites.
2. Malaysia has seen a large reduction in malaria cases from the 1980s but remains at risk due to its equatorial climate.
3. Malaria symptoms vary from mild to severe and can include fever, chills, headaches and more, with severe cases potentially involving coma, respiratory distress or kidney failure if left untreated.
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Metabolic emergencies in the Newborn
This document discusses neonatal metabolic emergencies that are often missed. It begins by noting the prevalence of inborn errors of metabolism and how certain communities may be at higher risk. It then explores why metabolic emergencies are commonly missed, including non-specific symptoms, precipitating illnesses, lack of available tests, and failure to consider metabolic causes. Several case studies are presented to illustrate signs that should prompt suspicion of an underlying metabolic issue, such as recurrent or unexplained illness. Common metabolic disorders that can cause neonatal emergencies are listed. The document concludes by emphasizing the importance of considering metabolic disorders when illnesses are unexplained or recurrent.
Acid base balance
This document provides an overview of acid-base balance and discusses the buffer systems, acid-base disorders, and how to analyze arterial blood gases (ABGs). It notes that the pH of blood is maintained between 7.35-7.45 through various buffer systems, including bicarbonate, proteins, phosphates, and bones. The main types of acid-base disorders - metabolic acidosis, metabolic alkalosis, respiratory acidosis, respiratory alkalosis - are explained. The document provides steps for ABG analysis, including determining the primary disturbance, expected compensation, calculating the anion gap and delta gap, and considering differential diagnoses. Common causes of each disorder are also listed.
Sodium metabolism
Dr. Sachin Verma is a young, diligent and dynamic physician. He did his graduation from IGMC Shimla and MD in Internal Medicine from GSVM Medical College Kanpur. Then he did his Fellowship in Intensive Care Medicine (FICM) from Apollo Hospital Delhi. He has done fellowship in infectious diseases by Infectious Disease Society of America (IDSA). He has also done FCCS course and is certified Advance Cardiac Life support (ACLS) and Basic Life Support (BLS) provider by American Heart Association. He has also done a course in Cardiology by American College of Cardiology and a course in Diabetology by International Diabetes Centre. He specializes in the management of Infections, Multiorgan Dysfunctions and Critically ill patients and has many publications and presentations in various national conferences under his belt. He is currently working in NABH Approved Ivy super-specialty Hospital Mohali as Consultant Intensivists and Physician.
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
Acid Base disorders.ppt
This document discusses acid-base disorders and their classification. It provides details on:
- Metabolic acidosis is caused by loss of bicarbonate or addition of acid and affects tissues like the heart and brain. It is classified as normal or high anion gap.
- Metabolic alkalosis results from increased bicarbonate or stimuli for its reabsorption and is caused by loss of chloride, mineralocorticoid excess, or alkali administration.
- Respiratory acidosis is due to decreased ventilation relative to carbon dioxide production and causes tissue acidosis. Respiratory alkalosis is an increased ventilation relative to carbon dioxide production.
Metabolic acidosis
Metabolic acidosis is a condition where the blood has too much acid or too little base, resulting in a decrease in blood pH and plasma bicarbonate levels. It occurs when an acid other than carbon dioxide accumulates in the body. There are two primary types: normal anion gap metabolic acidosis and high anion gap metabolic acidosis. The body compensates for metabolic acidosis initially through respiratory hyperventilation and later through renal mechanisms such as bicarbonate retention and acid excretion. Diagnosis involves arterial blood gas analysis and identifying the underlying cause through clinical evaluation, lab tests, and anion gap calculations. Treatment focuses on correcting the underlying disorder and managing symptoms, with bicarbonate therapy reserved for
Diagnostic Tests. Interpretation of lab test
This document provides an overview of the interpretation of common laboratory tests. It discusses normal values and how they can help assess clinical disorders. Several electrolytes are examined in detail, including sodium, potassium, calcium, magnesium, phosphate, carbon dioxide content, and chloride. The concepts of anion gap, osmolality, and blood urea nitrogen are also summarized. The document aims to aid medical professionals in properly interpreting laboratory results.
Urine analysis
This document discusses urine analysis including urine collection, 24 hour urine samples, specimen preservation, and urine examination. Key points include:
- Urine is formed in the kidneys and various samples can be collected including early morning, random, 24 hour, and catheterized samples.
- 24 hour urine samples are used to quantitatively estimate proteins, hormones, microalbumin, and metabolites.
- Preservatives like HCl, toluene, and boric acid can be used but may interfere with tests. Samples should be examined within 1-2 hours.
- Urine examination includes macroscopic tests of volume, color, odor, pH; microscopic tests; and chemical tests for proteins, sugars
Acid base by dr wazed
This document discusses acid-base balance and acid-base disorders. It begins with an overview of acid-base homeostasis and the mechanisms that regulate hydrogen ion concentration in the body. It then describes the four main types of acid-base disorders - metabolic acidosis, metabolic alkalosis, respiratory acidosis, and respiratory alkalosis - and their primary and secondary effects. The document outlines the causes, assessments, and management approaches for different acid-base imbalances. It emphasizes the importance of interpreting biochemical parameters like arterial blood gases and provides guidance on their indications and techniques.
Biochemistry lecture 17 introduction to lipid metabolism with clinical case s...
For undergraduate medical students, illustrated simple presentation of lipid metabolism with clinical case studies as per MCI 2010 standard.
12- Metabolic Disorders.ppt
1. Inborn errors of metabolism are hereditary biochemical diseases caused by single gene defects that result in errors in the metabolism of proteins, carbohydrates, or fats.
2. Symptoms vary depending on the specific disorder but can include developmental delay, organomegaly, neurological abnormalities, and in some cases distinctive odors.
3. Treatment depends on the underlying cause but may include dietary modifications, supplements to replace missing enzymes or cofactors, or gene therapy in some cases. Early diagnosis through newborn screening can help prevent complications.
12- Metabolic Disorders.ppt
Metabolic disorders are complex disorders and this presentation have collectively explained them to make it easier for the viewers
ABG and spirometry
This document discusses acid-base disorders and interpretation of arterial blood gases (ABGs) and spirometry. It provides:
1. An overview of acid-base homeostasis and the three major methods to quantify acid-base disorders - the physiological approach, base-excess approach, and physicochemical approach.
2. The normal ranges for parameters in an ABG report like pH, PaCO2, PaO2, HCO3, and SaO2.
3. A step-wise approach to solving acid-base disorders, including assessing validity, determining if there is acidemia or alkalemia, identifying the primary disorder, assessing compensation, calculating anion gap, and calculating delta gap to
Clinical chemistry lecture slide show
The document discusses several clinical chemistry tests including glucose, proteins, and lipids. It provides details on glucose determination methods, normal and abnormal glucose levels, and potential causes of hyperglycemia and hypoglycemia. It also outlines the main functions and assessments of various plasma proteins, including total protein, albumin, and globulins that are separated via electrophoresis.
La2009
Lactic acidosis (LA) is a type of metabolic acidosis caused by lactic acid buildup in the body. There are two main types - type A due to tissue hypoxia, and type B which is not caused by hypoxia. Type B includes subtypes B1 associated with underlying diseases, B2 caused by certain drugs and toxins, and B3 involving inborn errors of metabolism. LA can be diagnosed through patient history, symptoms, and laboratory tests showing acidosis and elevated lactate levels. Treatment focuses on addressing the underlying cause, improving oxygen delivery for type A, and correcting metabolic or drug issues for type B. Prognosis depends on the severity and underlying condition, with mortality rates over 60
Acid_base_balance_disorders.pptx
1. This document discusses acid-base disturbances and their classification, causes, clinical features, and treatment. It covers topics like metabolic acidosis, respiratory acidosis, metabolic alkalosis, and respiratory alkalosis.
2. Normal acid-base balance and electrolyte values are outlined. Case histories of patients with acid-base imbalances are presented, asking questions about identifying and explaining the nature of the disturbances.
3. Compensatory responses to primary acid-base disorders aim to restore pH balance. Anion gap and its role in identifying acid-base etiologies are explained. Causes, signs, and management of the main acid-base disorders are detailed.
Gap Acidosis
1. A 70-year-old woman presented with ataxia and altered mental status and was found to have a high anion gap metabolic acidosis which resolved after treatment with sodium bicarbonate.
2. Causes of a high or low anion gap were discussed, including decreased albumin levels, organic paraproteins, and toxins.
3. Various causes of lactic acidosis were outlined, including increased lactate production from defects in gluconeogenesis or impaired pyruvate utilization, as well as causes related to hypoxia or altered redox state.
Toxic alcohol
This document discusses toxic alcohols including ethanol, methanol, ethylene glycol, and isopropanol. It provides details on the sources, metabolism, clinical effects, diagnosis, and treatment of toxic alcohol poisoning for each substance. Key points include the different metabolic pathways, symptoms based on serum concentration levels, use of antidotes like ethanol or fomepizole to prevent metabolism, and indications for hemodialysis in severe poisonings.
Dr Rajkumar
This document describes the case of a 3-year-old boy who presented with recurrent loss of consciousness following trivial illness. Initial workup revealed hypoglycemia and hyperammonemia. Further testing found elevated 2-oxoglutaric acid and a high C0/C16-18 ratio suggestive of carnitine palmitoyltransferase I (CPT-I) deficiency. The patient was diagnosed with a fatty acid oxidation disorder and treated accordingly.
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Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
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Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
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Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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iap-ahmedabad-inborn error of metabolism
- 1. Approach to Inborn Error of Metabolism in a Neonate Filomena Hazel R. Villa, MD PL2
- 14. Copyright ©1998 American Academy of Pediatrics
- 23. Thank you !