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