Creatine GAMT deficiency

Table 24,5 Guanidinoacetate, creatine and creatinine in 24.1 GAMT deficiency...

GAMT deficiency is the first inborn error of creatine metabolism clinically characterised by mental retardation, epilepsy, and extrapyramidal... 

Ensenauer R, Thiel T, Schwab KO, Lehnert W. Presence of muscle creatine in a patient with guanidinoacetate methyltransferase (GAMT) deficiency. J Inher Metab Dis 2000 23 (suppl 1) 212... 

According to the limited number of patients identified so far, the clinical spectrum of GAMT, AGAT and CRTR deficiencies includes mental retardation as main symptom. Further recognition of patients with defects in creatine synthesis will be of major importance as affected patients may substantially benefit from oral creatine substitution. Determination of guanidinoacetate, creatine and creatinine in body fluids and determination of brain creatine by in vivo magnetic resonance spectroscopy are valuable diagnostic tools. 

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