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Carbamoyl phosphate synthetase deficiency

Definition: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

Synonyms (terms occurring on more labels are shown first): carbamylphosphate synthetase deficiency

More information: PubMed search and possibly Wikipedia

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