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