Urea Cycle Disorders Overview

Excerpt

The purpose of this overview is to:

1. 1

   Briefly describe the clinical characteristics of urea cycle disorders;

2. 2

   Review the genetic causes of urea cycle disorders;

3. 3

   Review the differential diagnosis of urea cycle disorders with a focus on genetic conditions;

4. 4

   Provide an evaluation strategy to identify the genetic cause of a urea cycle disorder in a proband (when possible);

5. 5

   Review management of hyperammonemia and urea cycle disorders;

6. 6

   Inform genetic counseling of family members of an individual with a urea cycle disorder and evaluation of a newborn at risk for a urea cycle disorder.