Urea Cycle Disorders Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2003 Apr 29 [updated 2017 Jun 22].

¹ Children’s National Rare Disease Institute, Children’s National Health System, Washington, DC
² Department of Pediatrics, Division of Neurology, Children’s National Health System, Washington, DC
³ Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota

Excerpt

The goals of this overview on urea cycle disorders are the following:

Goal 1: To define the urea cycle and to describe the clinical characteristics of urea cycle disorders

Goal 2: To review the causes of urea cycle disorders and their prevalence

Goal 3: To provide an evaluation strategy to identify the specific type and genetic cause of a urea cycle defect in a proband

Goal 4: To review the differential diagnosis of urea cycle disorders

Goal 5: To inform genetic risk assessment in family members of the proband

Goal 6: To provide a brief summary of the acute management of a urea cycle disorder