Magnetic resonance in a 9-day-old heterozygous female child with creatine transporter deficiency

被引：24

作者：

Cecil, KM

DeGrauw, TJ

Salomons, GS

Jakobs, C

Egelhoff, JC

Clark, JF

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Dept Radiol, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH 45229 USA

[3] Univ Cincinnati, Med Ctr, Cincinnati, OH 45267 USA

[4] VU Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

来源：

JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY | 2003年 / 27卷 / 01期

关键词：

magnetic resonance spectroscopy; creatine; creatine transporter deficiency; CRTR; SLC6A8; X-linked;

D O I：

10.1097/00004728-200301000-00009

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.

引用

页码：44 / 47

页数：4

共 16 条

[1] X-linked creatine deficiency syndrome:: A novel mutation in creatine transporter gene SLC6A8 [J].