Carbamoyl-Phosphate Synthase I Deficiency Disease | Legal notice |
|
Other terms
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency,Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease,Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency),Carbamoyl-Phosphate Synthetase I Deficiency Disease,Carbamoyl Phosphate Synthetase I Deficiency Disease,Deficiency Disease, Carbamoylphosphate Synthetase I,Carbamyl Phosphate Synthetase (CPS) Deficiency,Carbamyl Phosphate Synthetase Deficiency Disease,Carbamyl-Phosphate Synthetase I Deficiency Disease,Carbamyl Phosphate Synthetase I Deficiency Disease,CPS 1 Deficiency,CPS 1 Deficiencies,Deficiencies, CPS 1,Deficiency, CPS 1,Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia),Deficiency Disease, Carbamoyl-Phosphate Synthase,Deficiency Disease, Carbamoyl Phosphate Synthase,Deficiency Disease, Carbamyl Phosphate Synthetase,Carbamoylphosphate Synthetase I Deficiency Disease
Description
Carbamoyl-Phosphate Synthase 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)
Pervious tree
Next tree
Other locations in tree
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
Neither the United States Government, nor any of its agencies, contractors, subcontractors or employees makes any warranties, expressed or implied, with respect to data contained in the database, and, furthermore, assumes no legal liability for any party's use, or the results of such use, of any part of the database.
You will not assert any proprietary rights to any portion of the database, or represent the database or any part thereof to anyone as other than a United States Government database.
The MeSH data carry an international copyright outside the United States, its Territories or Possessions. These terms and conditions are in effect as long as the user retains any of the MeSH data obtained from this site.