Disease related to aminoacid metabolosmVipin Kannan
This document discusses diseases related to amino acid metabolism, including alkaptonuria, phenylketonuria, and homocystinuria. It provides an overview of amino acid catabolism and degradation pathways. Specific genetic defects that cause these diseases are described, including symptoms and diagnostic criteria. Treatment options are mentioned for managing associated health issues.
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.
This document provides an overview of various amino acid disorders and their associated urinary screening tests and diagnostic procedures. It discusses specific disorders like phenylketonuria (PKU), tyrosyluria, alkaptonuria, melanonuria, maple syrup urine disease, organic acidemias, and purine disorders. For each condition, it describes the genetic and metabolic basis, associated symptoms, and urinary tests used for screening and diagnosis, including the Guthrie test for PKU and 2,4-dinitrophenylhydrazine reaction for maple syrup disease.
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
The document summarizes the process of glycolysis. It discusses how glycolysis involves 10 steps divided into 3 stages. The first stage converts glucose to fructose 1,6-bisphosphate. The second stage cleaves this molecule into two 3-carbon fragments. The third stage oxidizes these fragments to pyruvate, producing ATP through substrate-level phosphorylation. Key intermediates like glucose-6-phosphate and 1,3-bisphosphoglycerate have properties that allow harvesting of energy to produce ATP. The document also notes how glycolysis traps glucose within cells and provides building blocks for biosynthesis.
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.
Disease related to aminoacid metabolosmVipin Kannan
This document discusses diseases related to amino acid metabolism, including alkaptonuria, phenylketonuria, and homocystinuria. It provides an overview of amino acid catabolism and degradation pathways. Specific genetic defects that cause these diseases are described, including symptoms and diagnostic criteria. Treatment options are mentioned for managing associated health issues.
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.
This document provides an overview of various amino acid disorders and their associated urinary screening tests and diagnostic procedures. It discusses specific disorders like phenylketonuria (PKU), tyrosyluria, alkaptonuria, melanonuria, maple syrup urine disease, organic acidemias, and purine disorders. For each condition, it describes the genetic and metabolic basis, associated symptoms, and urinary tests used for screening and diagnosis, including the Guthrie test for PKU and 2,4-dinitrophenylhydrazine reaction for maple syrup disease.
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
The document summarizes the process of glycolysis. It discusses how glycolysis involves 10 steps divided into 3 stages. The first stage converts glucose to fructose 1,6-bisphosphate. The second stage cleaves this molecule into two 3-carbon fragments. The third stage oxidizes these fragments to pyruvate, producing ATP through substrate-level phosphorylation. Key intermediates like glucose-6-phosphate and 1,3-bisphosphoglycerate have properties that allow harvesting of energy to produce ATP. The document also notes how glycolysis traps glucose within cells and provides building blocks for biosynthesis.
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.
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