Kreatinhiány - A mentális retardáció lehetseges oka

Translated title of the contribution: Creatine deficiency - A possible cause of mental retardation

Vojcek Eszter, Baráth Ákos, Sztriha László, Túri Sándor, Karg Eszter

Research output: Contribution to journalArticle

Abstract

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.

Translated title of the contributionCreatine deficiency - A possible cause of mental retardation
Original languageHungarian
Pages (from-to)207-211
Number of pages5
JournalLege Artis Medicinae
Volume21
Issue number3
Publication statusPublished - Mar 1 2011

ASJC Scopus subject areas

  • Medicine(all)

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