Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Definition in Medical Conditions Dictionary

Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease:

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)

Terms Related to Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

Carbamoyl-Phosphate Synthase (Ammonia)
An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea ...
Ornithine Transcarbamylase Deficiency Disease
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-linked trait and featuring elevations of amino acids and ...

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Medical Conditions Dictionary

Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Definition

Terms Related to Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

Carbamoyl-Phosphate Synthase (Ammonia)

Ornithine Transcarbamylase Deficiency Disease

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