Inborn Errors of Metabolism

Posted by e-Medical PPT Friday, July 16, 2010
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.
Major categories of inherited metabolic diseases
* Disorders of carbohydrate metabolism - glycogen storage disease(Type 1= Von Gierke’s,Type 2- Pompe’s disease)
* Disorders of amino acid metabolism - phenylketonuria , maple syrup urine disease, glutaric acidemia type 1
* Disorders of organic acid metabolism - alcaptonuria
* Disorders of fatty acid oxidation and mitochondrial metabolism
* Disorders of porphyrin metabolism - acute intermittent porphyria
* Disorders of purine or pyrimidine metabolism - Lesch-Nyhan syndrome
* Disorders of steroid metabolism - congenital adrenal hyperplasia
* Disorders of mitochondrial function - Kearns-Sayre syndrome
* Disorders of peroxisomal function - Zellwegger’s (Cerebro-Hepato-renal)
X-linked Adrenoleukodystrophy
* Lysosomal storage disorders - Mucopolysaccharidoses (X-linked Hunter’s, Hurler’s),Gaucher disease,Tay-Sachs Disease

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1 Response to Inborn Errors of Metabolism

  1. Anonymous Says:
  2. thanks 4 the info. home reading


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