About The Medical Condition Carbamyl Phosphate Synthetase Deficiency Disease
Find the definition of the medical term Carbamyl Phosphate Synthetase Deficiency Disease. Carbamyl Phosphate Synthetase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Carbamyl Phosphate Synthetase Deficiency Disease
| Carbamyl Phosphate Synthetase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Carbamyl Phosphate Synthetase 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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