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01-09-2014 | Metabolic Dissertation

X-linked creatine transporter deficiency: clinical aspects and pathophysiology

Authors: Jiddeke M. van de Kamp, Grazia M. Mancini, Gajja S. Salomons

Published in: Journal of Inherited Metabolic Disease | Issue 5/2014

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.

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Title: X-linked creatine transporter deficiency: clinical aspects and pathophysiology
Authors: Jiddeke M. van de Kamp
Grazia M. Mancini
Gajja S. Salomons
Publication date: 01-09-2014
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2014
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-014-9713-8

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