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

doi:10.1002/ana.10246

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 journal › Article › peer-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 language	English
Pages (from-to)	227-231
Number of pages	5
Journal	Annals of Neurology
Volume	52
Issue number	2
DOIs	https://doi.org/10.1002/ana.10246
Publication status	Published - 2002

ASJC Scopus subject areas

Neuroscience(all)

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10.1002/ana.10246

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title = "X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8",

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.",

author = "Alberto Bizzi and Marianna Bugiani and Salomons, {Gajja S.} and Hunneman, {Donald H.} and Isabella Moroni and Margherita Estienne and Ugo Danesi and Cornelis Jakobs and Graziella Uziel",

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AU - Bizzi, Alberto

AU - Bugiani, Marianna

AU - Salomons, Gajja S.

AU - Hunneman, Donald H.

AU - Moroni, Isabella

AU - Estienne, Margherita

AU - Danesi, Ugo

AU - Jakobs, Cornelis

AU - Uziel, Graziella

PY - 2002

Y1 - 2002

N2 - 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.

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

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