Carbamoyl-Phosphate Synthase I Deficiency Disease (definition)

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Carbamoyl-Phosphate Synthase I Deficiency Disease

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Definition: 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)

consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
See Also Carbamoyl-Phosphate Synthase (Ammonia)

Other names Deficiency, CPS 1; Deficiency Disease, Carbamoyl Phosphate Synthase; Deficiencies, CPS 1; Carbamyl Phosphate Synthetase I Deficiency Disease; Carbamoyl Phosphate Synthetase I Deficiency Diseas; CPS 1 Deficiencies; Deficiency Disease, Carbamoylphosphate Synthetase ; Deficiency Disease, Carbamoyl-Phosphate Synthase; Deficiency Disease, Carbamoyl Phosphate Synthase (; Carbamyl Phosphate Synthetase Deficiency Disease; Carbamyl Phosphate Synthetase (CPS) Deficiency; Carbamoylphosphate Synthetase I Deficiency Disease; Carbamoyl-Phosphate Synthetase I Deficiency Diseas; Carbamoyl Phosphate Synthase (Ammonia) Deficiency ; Hyperammonemia Due to Carbamoyl Phosphate Syntheta; Deficiency Disease, Carbamyl Phosphate Synthetase; Carbamyl-Phosphate Synthetase I Deficiency Disease; Carbamoyl-Phosphate Synthase I Deficiency Disease ; CPS 1 Deficiency

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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