通过测定血浆和尿液中的肌酸和胍基乙酸来诊断肌酸代谢紊乱。

Diagnosis of creatine metabolism disorders by determining creatine and guanidinoacetate in plasma and urine.

作者信息

Sun Qin, O'Brien William E

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

出版信息

Methods Mol Biol. 2010;603:175-85. doi: 10.1007/978-1-60761-459-3_17.

DOI:10.1007/978-1-60761-459-3_17

PMID:20077070

Abstract

Creatine metabolism disorders include a creatine transporter deficiency, as well as, deficiencies of two enzymes involved in creatine synthesis, arginine-glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT). Laboratory diagnosis of these disorders relies on the determination of creatine and guanidinoacetate in both plasma and urine. Here we describe a rapid HPLC/MS/MS method for these measurements using a normal phase HILIC column after analyte derivatization.

摘要

肌酸代谢紊乱包括肌酸转运蛋白缺乏症，以及参与肌酸合成的两种酶——精氨酸-甘氨酸脒基转移酶（AGAT）和胍基乙酸甲基转移酶（GAMT）的缺乏症。这些紊乱的实验室诊断依赖于血浆和尿液中肌酸和胍基乙酸的测定。在此，我们描述了一种在分析物衍生化后使用正相亲水作用色谱柱进行这些测量的快速高效液相色谱/串联质谱法。