About The Medical Condition Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

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Find the definition of the medical term Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease. Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Medical Condition Defined & Explained
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition 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)

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