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Urea cycle disorders: Management

INTRODUCTION

The urea cycle is the metabolic pathway that transforms nitrogen to urea for excretion from the body (figure 1). Deficiency of an enzyme in the pathway causes a urea cycle disorder (UCD). The UCDs are:

Carbamoyl phosphate synthetase I (CPSI) deficiency (MIM #237300)

Ornithine transcarbamylase (OTC) deficiency (MIM #311250)

Argininosuccinate synthetase (ASS) deficiency (also known as classic citrullinemia or type I citrullinemia, CTLN1, MIM #215700)

Argininosuccinate lyase (ASL) deficiency (also known as argininosuccinic aciduria, MIM #207900)

                    

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Literature review current through: Jul 2014. | This topic last updated: Sep 3, 2013.
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