Urea cycle disorders: clinical presentation outside the newborn period.

Published

Journal Article (Review)

Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated with acute illness are also common. A disorder of urea cycle metabolism should be considered in children who have recurrent symptoms, especially neurologic abnormalities associated with periods of decompensation. Routine laboratory tests, including measurement of plasma ammonia concentrations, can indicate a potential UCD; however, specific metabolic testing and ultimately enzymatic or molecular confirmation are necessary to establish a diagnosis. Treatment with dietary protein restriction and medications may be challenging in children.

Full Text

Duke Authors

Cited Authors

  • Smith, W; Kishnani, PS; Lee, B; Singh, RH; Rhead, WJ; Sniderman King, L; Smith, M; Summar, M

Published Date

  • October 2005

Published In

Volume / Issue

  • 21 / 4 Suppl

Start / End Page

  • S9 - 17

PubMed ID

  • 16227115

Pubmed Central ID

  • 16227115

International Standard Serial Number (ISSN)

  • 0749-0704

Digital Object Identifier (DOI)

  • 10.1016/j.ccc.2005.05.007

Language

  • eng

Conference Location

  • United States