Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

被引：99

作者：

Almeida, LS

Verhoeven, NM

Roos, B

Valongo, C

Cardoso, ML

Vilarinho, L

Salomons, GS

Jakobs, C

机构：

[1] Vrije Univ Amsterdam, Ctr Med, Metab Unit, Dept Clin Chem, NL-1081 HV Amsterdam, Netherlands

[2] Inst Genet Med Dr Jacinto Magalhaes, Unidade Biol Clin, P-4050466 Oporto, Portugal

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 82卷 / 03期

关键词：

guanidinoacetate; creatine; creatinine; creatine transporter; guanidinoacetate methyltransferase; arginine : glycine amidinotransferase; reference values;

D O I：

10.1016/j.ymgme.2004.05.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma, and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas chromatography-mass spectrometry. Both compounds were analyzed in a single analysis. Reference values were established for GAA and Cr. These values were age dependent. No differences with gender were observed. Eight guanidinoacetate methyltransferase (GAMT) deficient patients and eight creatine transporter SLC6A8 deficient patients were investigated. In urine, plasma, and CSF of GAMT deficient patients increased levels of GAA are present. The SLC6A8 deficient patients all show increased creatine/creatinine (Cr/Crn) ratio in urine demonstrating the importance of the Cr/Crn ratio as a pathognomonic marker of the SLC6A8 deficiency. (C) 2004 Elsevier Inc. All rights reserved.

引用

页码：214 / 219

页数：6

共 14 条

[1]

Bianchi MC, 2000, ANN NEUROL, V47, P511

[2] Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry [J].