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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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Rosen, Peter, et al., editors. "Inborn Errors of Metabolism." 5-Minute Emergency Consult, 5th ed., Lippincott Williams & Wilkins, 2016. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism.
Inborn Errors of Metabolism. In: Rosen P, Shayne P, Barkin AZ, et al, eds. 5-Minute Emergency Consult. 5th ed. Lippincott Williams & Wilkins; 2016. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism. Accessed April 25, 2019.
Inborn Errors of Metabolism. (2016). In Rosen, P., Shayne, P., Barkin, A. Z., Wolfe, R. E., Hayden, S. R., Barkin, R. M., & Schaider, J. J. (Eds.), 5-Minute Emergency Consult. Available from https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism
Inborn Errors of Metabolism [Internet]. In: Rosen P, Shayne P, Barkin AZ, Wolfe RE, Hayden SR, Barkin RM, Schaider JJ, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2016. [cited 2019 April 25]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Inborn Errors of Metabolism ID - 307199 ED - Rosen,Peter, ED - Shayne,Philip, ED - Barkin,Adam Z, ED - Wolfe,Richard E, ED - Hayden,Stephen R, ED - Barkin,Roger M, ED - Schaider,Jeffrey J, 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 -