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

Alberto Bizzi, Marianna Bugiani, Gajja S. Salomons, Donald H. Hunneman, Isabella Moroni, Margherita Estienne, Ugo Danesi, Cornelis Jakobs, Graziella Uziel

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)227-231
Number of pages5
JournalAnnals of Neurology
Volume52
Issue number2
DOIs
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8'. Together they form a unique fingerprint.

Cite this