X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene <i>SLC6A8</i>
Alberto Bizzi(Fondazione IRCCS Istituto Neurologico Carlo Besta), Marianna Bugiani(Fondazione IRCCS Istituto Neurologico Carlo Besta), Gajja S. Salomons(Amsterdam UMC Location Vrije Universiteit Amsterdam), D. H. Hunneman(Universitätsmedizin Göttingen), Isabella Moroni(Fondazione IRCCS Istituto Neurologico Carlo Besta), Margherita Estienne(Fondazione IRCCS Istituto Neurologico Carlo Besta), U. Danesi(Fondazione IRCCS Istituto Neurologico Carlo Besta), Cornelis Jakobs(Amsterdam UMC Location Vrije Universiteit Amsterdam), Graziella Uziel(Fondazione IRCCS Istituto Neurologico Carlo Besta)
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Abstract
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.
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