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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