X-linked creatine transporter deficiency: clinical aspects and pathophysiology

JM van de Kamp, Grazia Verheijen - Mancini, GS Salomons

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Abstract

Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The condition mainly affects the brain while other creatine requiring organs, such as the muscles, are relatively spared. Recent studies have provided strong evidence that creatine synthesis also occurs in the brain, leading to the intriguing question of why cerebral creatine is deficient in creatine transporter deficiency. The possible mechanisms explaining the cerebral creatine deficiency are discussed. The creatine transporter knockout mouse provides a good model to study the disease. Over the past years several treatment options have been explored but no treatment has been proven effective. Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment.
Original languageUndefined/Unknown
Pages (from-to)715-733
Number of pages19
JournalJournal of Inherited Metabolic Disease
Volume37
Issue number5
DOIs
Publication statusPublished - 2014

Research programs

  • EMC MGC-02-96-01

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