[Diagnosis and treatment of brain creatine deficiency syndromes].

Abstract excerpt

AIM: To review the clinical, biochemical and genetic aspects of brain creatine deficiency syndromes, as well as the therapeutic options available. DEVELOPMENT: Brain creatine deficiency syndrome has recently been described as a series of inborn errors of metabolism that affect the synthesis and transport of creatine. Three metabolic defects are known: two affect synthesis -guanidinoacetate methyltransferase...

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