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;
Origin ID : 1742386453;
UMLS CUI : C2675179;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
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.