N-acetylglutamate synthase deficiency

Preferred Label : N-acetylglutamate synthase deficiency;

Symbol : NAGSD;

CISMeF acronym : NAGSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nags deficiency; N-acetylglutamate synthetase deficiency; Hyperammonemia due to n-acetylglutamate synthetase deficiency;

Description : N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency (237300), since the CPS1 enzyme (608307) has an absolute requirement for;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetylglutamate synthase gene (NAGS, 608300.0001);

Laboratory abnormalities : Hyperammonemia; Increased serum glutamine; Decreased or absent serum citrulline; Normal urinary orotic acid;

Prefixed ID : #237310;

Details

Origin ID

237310;

UMLS CUI

C0268543;

Automatic exact mappings (from CISMeF team)
- N-acetylglutamate synthase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetyl glutamate synthetase deficiency [MeSH concept]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]
Genes related to phenotype
- N-acetylglutamate synthase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Failure to thrive [HPO term]
- Hyperammonemia [HPO term]
- Increased level of L-glutamic acid in blood [HPO term]
- Lethargy [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
See also inter- (CISMeF)
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperammonaemia due to N-acetylglutamate synthetase deficiency [ICD-11 More detail]
- Hyperammonemia due to N-acetylglutamate synthase deficiency [ORDO Disease]
- Hyperammonemia, type III (disorder) [SNOMED CT concept]
- N-Acetylglutamate Synthase Deficiency [NCIt concept]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- N-acetyl glutamate synthetase deficiency [MeSH concept]
- N-acetylglutamate synthase deficiency [MedDRA Preferred Term]
- N-acetylglutamate synthase deficiency [ICD-11 More detail]
- amino acid acetyltransferase deficiency [Disease (Nov.)]
- hyperammonemia, type iii [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients