Arginine glycine amidinotransferase deficiency

Preferred Label : Arginine glycine amidinotransferase deficiency;

ICD-11 definition : Arginine:glycine amidinotransferase (GAAT) deficiency is characterised by psychomotor retardation and very low plasma and urine guanidinoacetate and creatine concentrations. Cerebral creatine concentrations are also strongly reduced. GAAT is involved in energetic metabolism at the level of creatine synthesis. The mode of transmission is autosomal recessive. Early diagnosis and administration of creatine prevents onset of the manifestations of this disorder.;

ICD-11 synonym : AGAT - [Arginine glycine amidinotransferase] deficiency; AGAT deficiency;

Details

Origin ID

1742386453;

UMLS CUI

C2675179;

Automatic exact mappings (from CISMeF team)
- AGAT deficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- AGAT deficiency [DO Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGAT deficiency [DO Concept]
- AGAT deficiency [MedDRA LLT]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Cerebral Creatine Deficiency Syndrome 3 [NCIt concept]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- L-arginine-glycine amidinotransferase deficiency [MedDRA LLT]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]

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