About The Medical Condition Carbamyl-Phosphate Synthetase I Deficiency Disease

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Find the definition of the medical term Carbamyl-Phosphate Synthetase I Deficiency Disease. Carbamyl-Phosphate Synthetase I Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamyl-Phosphate Synthetase I Deficiency Disease Medical Condition Defined & Explained
Carbamyl-Phosphate Synthetase I Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition Carbamyl-Phosphate Synthetase I 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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