N-acetylaspartylglutamate in Canavan disease: an adverse effector?

被引：34

作者：

Burlina, AP

Ferrari, V

Divry, P

Gradowska, W

Jakobs, C

Bennett, MJ

Sewell, AC

Dionisi-Vici, C

Burlina, AB

机构：

[1] Ctr Ric Biomed, Castlefranco Veneto, Italy

[2] Hop Debrousse, Biochim Lab, Lyon, France

[3] Childrens Mem Hlth Inst, Lab Diagnost Dept, Warsaw, Poland

[4] Free Univ Amsterdam Hosp, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

[5] Univ Texas, SW Med Ctr, Dept Pathol, Childrens Med Ctr, Dallas, TX USA

[6] Univ Frankfurt Hosp, Dept Paediat, Frankfurt, Germany

[7] Bambino Gesu Pediat Hosp, Dept Metab, Rome, Italy

[8] Univ Padua, Dept Paediat, I-35128 Padua, Italy

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1999年 / 158卷 / 05期

关键词：

N-acetylaspartate; N-acetylaspartylglutamate; Canavan disease; urine; capillary zone electrophoresis;

D O I：

10.1007/s004310051102

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We measured N-acetylaspartate and its precursor/product N-acetylaspartyl-glutamate (NAAG) in urine of patients with Canavan disease using capillary zone electrophoresis. Abnormal levels of NAAG were found in 32 of 43 patients examined. Elevated NAAG was also present in the CSF of one patient. Given that NAAG may interfere with N-methyl-D-aspartate receptor function, the occurrence of high levels of NAAG in patients' urine conceivably represents a participating factor in the pathogenesis of Canavan disease. Conclusion The biochemical role of N-acetylaspartylglutamate and its relationship to glutamatergic function may be relevant to the pathogenesis of Canavan disease.

引用

页码：406 / 409

页数：4

共 24 条

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