AGAT 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, which include intellectual disability (foremost speech delay), epilepsy, behavioral disturbances / autism. (Source: Orphanet)

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