2. Academic Validation
  3. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8

  • Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246.
Alberto Bizzi 1,  Marianna Bugiani,  Gajja S Salomons,  Donald H Hunneman,  Isabella Moroni,  Margherita Estienne,  Ugo Danesi,  Cornelis Jakobs,  Graziella Uziel
Affiliations

Affiliation

  • 1 Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
PMID: 12210795 DOI: 10.1002/ana.10246
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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