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Inborn Errors of Metabolism

CHAPTER OBJECTIVES
  • Classification of Inherited Metabolic Diseases
  • Enzyme Defects (Aminoacidopathies)
  • Defects in Purine Metabolism (Lesch Nyhan Syndrome)
  • Lysosomal Storage Diseases (Tay Sach's Disease)

The term inborn errors of metabolism was coined by Archibald Garrod who proposed the “one gene, one enzyme” hypothesis based on his research on the nature and inheritance of alkaptonuria. Most biochemical genetic disorders are in born errors of metabolism which occur due to defects in single genes that code for specific enzymes that catalyze the conversion of various biochemical substrates into products. In most of these biochemical disorders, problems arise due to accumulation of substrates due to lack of ...

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