Inborn Errors of Metabolism

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

To view the entire topic, please or purchase a subscription.

Emergency Central is a collection of disease, drug, and test information including 5-Minute Emergency Medicine Consult, Davis’s Drug, McGraw-Hill Medical’s Diagnosaurus®, Pocket Guide to Diagnostic Tests, and MEDLINE Journals created for emergency medicine professionals. Explore these free sample topics:

Emergency Central

-- The first section of this topic is shown below --

Basics

Description

  • 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

Etiology

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

-- To view the remaining sections of this topic, please or purchase a subscription --

Citation

* When formatting your citation, note that all book, journal, and database titles should be italicized* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Inborn Errors of Metabolism ID - 307199 Y1 - 2016 PB - 5-Minute Emergency Consult UR - https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307199/all/Inborn_Errors_of_Metabolism ER -