Lege Artis Medicinae

[Creatine deficiency - a possible cause of mental retardation]

VOJCEK Eszter, BARÁTH Ákos, SZTRIHA László, TÚRI Sándor, KARG Eszter

MARCH 20, 2011

Lege Artis Medicinae - 2011;21(03)

[Creatine plays a major role in the energy supply of brain and muscle tissues. In creatine deficiency states, insufficient energy supply of the brain tissue may lead to mental retardation with speech delay and behavioural problems, epilepsy and extrapyramidal symptoms, while that of the muscle tissue might result in hypotonia. Creatine deficiency has been shown to result either from dysfunction of the two enzymes involved in its synthesis, namely arginine:glycine amidinotransferase and guanidinoacetic methyltransferase, or from impairment of the SLC6A8 transporter protein that is responsible for the cellular uptake of creatine. Synthesis disorders can be efficiently treated by creatine supplementation. The therapy is the most efficient if it is started in time, before the development of irreversible damages. Thus, in case of mental retardation associated with delayed speech development or behavioural problems, or epilepsy of unknown origin, diagnostic tests for creatine deficiency are recommended as early as possible. In creatine-transport disorder, the results of treatments to increase the intracellular creatine pool are controversial]

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