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

被引：75

作者：

Bizzi, A

Bugiani, M

Salomons, GS

Hunneman, DH

Moroni, I

Estienne, M

Danesi, U

Jakobs, C

Uziel, G

机构：

[1] Ist Nazl Neurol C Besta, Dept Child Neurol, I-20133 Milan, Italy

[2] Ist Nazl Neurol C Besta, Dept Neuroradiol, I-20133 Milan, Italy

[3] VU Med Ctr, Metab Unit, Amsterdam, Netherlands

[4] Univ Gottingen, Kinderklin, D-3400 Gottingen, Germany

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 02期

关键词：

D O I：

10.1002/ana.10246

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：227 / 231

页数：5

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