Inherited disorders of metabolism

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Archive for August, 2009

Inherited Disoders of Metabolism

Posted by sereeluck on August 1, 2009

Inherited disorders or inborn errors of metabolism are diseases which enzyme deficiency or inactivity caused by mutations in genes that code for enzymes leads to accumulation of substrate precursors or metabolites or to deficiencies of the enzyme’s products. Hundreds of disorders exist, and most are extremely rare; they are typically grouped by the affected substrate (eg, carbohydrates, amino acids, fatty acids).

Types of inherited metabolic diseases

The inherited metabolic diseases were categorized depended on metabolism pathways in the body are

590metabolism

http://www.elmhurst.edu/~chm/vchembook/images/590metabolism.gif

1.Amino Acid Metabolism Disorders

2.Carbohydrate Metabolism Disorders

3.Fatty Acid and Glycerol Metabolism Disorders

4.Lysosomal Storage Disorders

5.Peroxisomal Disorders

6.Purine and Pyrimidine Metabolism Disorders

 (from http://www.merck.com/mmpe/index.html)

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