Urea Cycle Disorders Overview

Abstract

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