Structured Summary
Abstract
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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Synonyms
25 entry terms
- Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
- 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 Deficiency Disease
- Carbamyl-Phosphate Synthetase 1 Deficiency Disease
- Carbamyl-Phosphate Synthetase I Deficiency Disease
- Carbamoyl Phosphate Synthase 1 Deficiency Disease
- Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoyl Phosphate Synthetase I Deficiency Disease
- Carbamoylphosphate Synthetase 1 Deficiency Disease
- Carbamyl Phosphate Synthetase 1 Deficiency Disease
- Carbamyl Phosphate Synthetase I Deficiency Disease
- CPS 1 Deficiency
- CPS I Deficiency
- Carbamoyl Phosphate Synthase 1 Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
- Carbamyl Phosphate Synthetase (CPS) Deficiency
- Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
- CPS 1 Deficiencies
- CPS I Deficiencies
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
MeSH Record
History Note
2000
MeSH Record
Previous Indexing
- Amino Acid Metabolism, Inborn Errors (1975-1999)
- Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999)
- Metabolism, Inborn Errors (1970-1974)
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AMA Style
References
- National Library of Medicine. Carbamoyl-Phosphate Synthase I Deficiency Disease. Medical Subject Headings (MeSH). 2026. Unique ID D020165. http://id.nlm.nih.gov/mesh/2026/D020165
- Carbamoyl-Phosphate Synthase I Deficiency Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency
- Carbamoyl-Phosphate Synthase I Deficiency Disease. In: Wikidata. https://www.wikidata.org/wiki/Q5037834