5-Minute Emergency Consult
Inborn Errors Of Metabolism
Basics
Description
- 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. The diagnosis of this disorder is challenging because the presentation is often nonspecific
- Epidemiology:
- Incidence:
- >1:1000 births
- Incidence:
- 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
- Common inherited metabolic diseases:
- Pathophysiology:
- Related to defect in a metabolic pathway
Etiology
Diverse group of disorders involving genetic deficiency of an enzyme of an intermediary metabolite or a membrane transport system
There's more to see -- the rest of this topic is available only to subscribers.
Citation
Schaider, Jeffrey J., et al., editors. "Inborn Errors of Metabolism." 5-Minute Emergency Consult, 7th ed., Wolters Kluwer, 2027. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/2.2/Inborn_Errors_Of_Metabolism_.
Inborn Errors Of Metabolism. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Wolters Kluwer; 2027. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/2.2/Inborn_Errors_Of_Metabolism_. Accessed July 18, 2026.
Inborn Errors Of Metabolism. (2027). In Schaider, J. J., Barkin, R. M., Hayden, S. R., Wolfe, R. E., Barkin, A. Z., Shayne, P., & Rosen, P. (Eds.), 5-Minute Emergency Consult (7th ed.). Wolters Kluwer. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/2.2/Inborn_Errors_Of_Metabolism_
Inborn Errors of Metabolism [Internet]. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Wolters Kluwer; 2027. [cited 2026 July 18]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/2.2/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 - Barkin,Adam Z,
ED - Shayne,Philip,
ED - Rosen,Peter,
ED - Schaider,Jeffrey J,
ED - Barkin,Roger M,
ED - Hayden,Stephen R,
ED - Wolfe,Richard E,
BT - 5-Minute Emergency Consult
UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/2.2/Inborn_Errors_Of_Metabolism_
PB - Wolters Kluwer
ET - 7
DB - Emergency Central
DP - Unbound Medicine
ER -
