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Inborn Errors of Metabolism by Dr T Ashavaid

Posted by : Dr Amrita Vaidya, 22 Dec 2011 05:36 AM
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Inborn Errors of Metabolism (IEM) are a heterogeneous group of disorders caused due to single gene defect which may manifest immediately after birth, or within few days or weeks after birth. In recent decades hundreds of new inborn errors of metabolism have been discovered. Some of the major classes of inborn errors of metabolism are disorders of carbohydrate metabolism (e.g. Glycogen storage disease), amino acid metabolism (e.g. Phenylketonuria, Maple Syrup Urine Disease, Glutaric acidemia type – 1) organic acid metabolism (e.g. Alkaptonuria), fatty acid oxidation & mitochondrial metabolism (e.g. Glutaric Acidemia type – 2), peroxisomal function (e.g. Zellweger Syndrome), Lysosomal Storage Disorders (e.g. Gaucher’s Disease, Niemann Pick Disease) , purine or pyrimidine metabolism (e.g. Lesch-Nyhan Syndrome), steroid metabolism (e.g. Congenital adrenal hyperplasia) mitochondrial function (e.g. Kearns-Sayre Syndrome). To read more download article...
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