Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

被引：19

作者：

Mercimek-Mahmutoglu, Saadet ^{[1
,2
]}

Muehl, Adolf ^{[2
]}

Salomons, Gaja S. ^{[3
]}

Neophytou, Birgit ^{[4
]}

Moeslinger, Dorothea ^{[2
]}

Struys, Eduard ^{[1
,3
]}

Bodamer, Olaf A. ^{[2
]}

Jakobs, Cornelis ^{[3
]}

Stockler-Ipsiroglu, Sylvia ^{[1
,2
]}

机构：

[1] Univ British Columbia, Univ British Columbia Hosp, Div Biochem Dis, Dept Pediat, Vancouver, BC V6H 3V4, Canada

[2] Med Univ Vienna, Dept Paediat, Vienna, Austria

[3] Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Amsterdam, Netherlands

[4] St Anna Childrens Hosp, A-1090 Vienna, Austria

来源：

MOLECULAR GENETICS AND METABOLISM | 2009年 / 96卷 / 04期

关键词：

Cerebral creatine deficiency; X-linked mental retardation; Age dependent normal values; MENTAL-RETARDATION; GUANIDINOACETATE; DEFECT; MALES;

D O I：

10.1016/j.ymgme.2008.12.020

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

High urinary creatine to creatinine ratio (U-CrCrtR) is a potential diagnostic marker of X-linked creatine transporter (SLC6A8) deficiency. We developed a tandem mass-spectrometry method to simultaneously determine urinary creatine and creatinine in 975 individuals (0-18 years). U-CrCrtR increased up to 8 years and decreased thereafter. U-CrCrtR was 2.29 and 2.12 (99th percentile: 1.87) in two males with subsequently confirmed SLC6A8 mutations. The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：273 / 275

页数：3

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