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Inborn Errors of Metabolism

Inborn Errors of Metabolism is a topic covered in the 5-Minute Emergency Consult.

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  • Defect in the type, amount, and toxicity of metabolites that accumulate due to an inherited abnormal pathway in children; result in a variety of clinical findings; >400 human diseases are caused by inborn errors of metabolism
  • Epidemiology:
    • Incidence:
      • Variable: 1:10,000–1:200,000 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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TY - ELEC T1 - Inborn Errors of Metabolism ID - 307199 ED - Barkin,Adam Z, ED - Barkin,Roger M, ED - Hayden,Stephen R, ED - Rosen,Peter, ED - Schaider,Jeffrey J, ED - Shayne,Philip, ED - Wolfe,Richard E, BT - 5-Minute Emergency Consult UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism PB - Lippincott Williams & Wilkins ET - 5 DB - Emergency Central DP - Unbound Medicine ER -