Inborn Errors of Metabolism: Becoming Ready for Rare

Pediatr Rev. 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088.


Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children. The rarity and complexity of these conditions often make them difficult to recognize, as they may mimic more common conditions. This review article discusses some of the more commonly presenting IEMs that are important for the general pediatrician to understand when evaluating a sick patient. Many of these diseases are also on the newborn screen, which pediatricians often encounter as first-line providers. Disorders that are discussed in detail herein include disorders of amino acid metabolism, including amino acidopathies and organic acidurias; urea cycle disorders; defects in fatty acid β-oxidation; disorders of carbohydrate metabolism, including the glycogen storage diseases and galactosemia; and lysosomal storage diseases.

Publication types

  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors*
  • Child
  • Galactosemias*
  • Glycogen Storage Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Lysosomal Storage Diseases* / diagnosis
  • Metabolism, Inborn Errors* / diagnosis
  • Metabolism, Inborn Errors* / therapy