Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency

被引：36

作者：

Carducci, C

Birarelli, M

Santagata, P

Leuzzi, V

Carducci, C

Antonozzi, I

机构：

[1] Univ Rome La Sapienza, Dipartimento Med Sperimentale & Patol, I-00161 Rome, Italy

[2] Univ Rome La Sapienza, Dipartimento Sci Neurol & Psichiat Eta Evolut, I-00185 Rome, Italy

来源：

JOURNAL OF CHROMATOGRAPHY B | 2001年 / 755卷 / 1-2期

关键词：

guanidinoacetic acid; guanidinoacetate methyltransferase;

D O I：

10.1016/S0378-4347(01)00052-4

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

A new automated method for the assay of guanidinoacetic acid (GAA) in dried blood spot (DBS) on filter paper is reported. The method, based on reversed-phase (RP)-HPLC, precolumn derivatisation with benzoin and fluorescence detection, has shown good precision and sensitivity and requires only minimal sample handling. The validity of the method was demonstrated by analysing the neonatal blood spot of a patient affected by guanidinoacetate methyltransferase (GAMT) deficiency. GAA concentration was found to be nearly 12-fold higher than the mean control value. We propose this method as an inexpensive and widely applicable tool for the diagnosis of GAMT deficiency. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

页码：343 / 348

页数：6

共 23 条

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