Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to

Preferred Label : Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cps I deficiency; Carbamoyl phosphate synthetase I deficiency;

Description : Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbamoylphosphate synthetase I gene (CPS1, 608307.0001);

Laboratory abnormalities : Hyperammonemia; Low plasma citrulline; Low plasma arginine; Low urinary orotic acid; Hepatic carbamoylphosphate synthetase I deficiency;

Prefixed ID : #237300;

Details

Origin ID

237300;

UMLS CUI

C4082171;

Automatic exact mappings (from CISMeF team)
- Carbamoyl phosphate synthetase deficiency [PASCAL descriptor]
Currated CISMeF NLP mapping
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate Synthetase I Deficiency [NCIt concept]
- Carbamoyl-Phosphate synthase I deficiency disease [MeSH concept]
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
- Carbamoyl-phosphate synthetase 1 deficiency (disorder) [SNOMED CT concept]
- Carbamoylphosphate synthetase deficiency [ICD-11 Sub-sub category]
- Carbamylphosphate synthetase deficiency [MedDRA LLT]
- Congenital hyperammonemia, type I (disorder) [Inactive SNOMED CT concept]
- carbamoyl phosphate synthase i deficiency disease [Disease (Nov.)]
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
- carbamoyl-phosphate synthase i deficiency disease [MeSH Descriptor]
- congenital hyperammonemia, type i [SNOMED Notion]
DO Cross reference
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
Genes related to phenotype
- Carbamoyl phosphate synthetase I [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral edema [HPO term]
- Coma [HPO term]
- Episodic ammonia intoxication [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperammonemia [HPO term]
- Hypoargininemia [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Low plasma citrulline [HPO term]
- Protein avoidance [HPO term]
- Respiratory alkalosis [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hyperammonemia, type I (disorder) [Inactive SNOMED CT concept]

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