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Arginine:glycine amidinotransferase deficiency

Orpha number ORPHA35704
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E72.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


Last update: July 2006

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Detailed information
Clinical genetics review
  • EN (2011)
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