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