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Urea Cycle Disorders Overview.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Apr 29 [updated 2017 Jun 22].

Author information

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


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

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