About The Medical Condition Carbamoyl-Phosphate Synthetase I Deficiency Disease

ClusterMed

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

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

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)

More Medical Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Medical Conditions Definitions Of The Day