Inborn Errors of Metabolism



  • Defect in the type, amount, and toxicity of metabolites that accumulate due to inherited defects in metabolic pathways of enzymes, cofactors, or transporters that result in a variety of clinical findings; >500 human diseases are caused by inborn errors of metabolism
  • Epidemiology:
    • Incidence:
      • > 1:1,000 births
  • Genetics:
    • Common inherited metabolic diseases:
      • Amino acid disorders
      • Urea cycle defects
      • Organic acidemias
      • Defects in fatty acid oxidation
      • Mitochondrial fatty acid defects and carnitine transport defects
      • Mitochondrial disease
      • Carbohydrate disorders
      • Mucopolysaccharidoses
      • Sphingolipidoses
      • Peroxisomal disorders
      • Protein glycosylation disorders
      • Lysosomal disorders
      • Rhizomelic chondrodysplasia punctata
  • Pathophysiology:
    • Related to defect in a metabolic pathway


Diverse group of disorders involving genetic deficiency of an enzyme of an intermediary metabolite or a membrane transport system

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