NLM Logo

Carbamoyl-Phosphate Synthase I Deficiency Disease MeSH Descriptor Data 2023


MeSH Heading
Carbamoyl-Phosphate Synthase I Deficiency Disease
Tree Number(s)
C10.228.140.163.100.937.249
C16.320.565.100.940.249
C16.320.565.189.937.249
C18.452.132.100.937.249
C18.452.648.100.940.249
C18.452.648.189.937.249
C18.452.660.097
Unique ID
D020165
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020165
Annotation
consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
Scope Note
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)
Entry Version
CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS
Entry Term(s)
CPS 1 Deficiency
CPS I Deficiency
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Carbamoyl-Phosphate Synthase 1 Deficiency Disease
Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthetase I Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease -
Carbamoylphosphate Synthetase I Deficiency Disease
Carbamyl Phosphate Synthetase (CPS) Deficiency
Carbamyl Phosphate Synthetase Deficiency Disease
Carbamyl-Phosphate Synthetase 1 Deficiency Disease
Carbamyl-Phosphate Synthetase I Deficiency Disease
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1975-1999)
Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999)
Metabolism, Inborn Errors (1970-1974)
See Also
Carbamoyl-Phosphate Synthase (Ammonia)
Public MeSH Note
2000
History Note
2000
Date Established
2000/01/01
Date of Entry
1999/11/05
Revision Date
2016/02/26
Carbamoyl-Phosphate Synthase I Deficiency Disease Preferred
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency Related
Carbamoyl Phosphate Synthase 1 Deficiency Related
page delivered in 0.164s