BIOCHEMICAL-DIAGNOSIS OF CANAVAN DISEASE

被引：11

作者：

BARTALINI, G ^{[1
]}

MARGOLLICCI, M ^{[1
]}

BALESTRI, P ^{[1
]}

FARNETANI, MA ^{[1
]}

CIONI, M ^{[1
]}

FOIS, A ^{[1
]}

机构：

[1] UNIV SIENA,IST CLIN PEDIAT,VIA PA MATTIOLI 10,I-53100 SIENA,ITALY

来源：

CHILDS NERVOUS SYSTEM | 1992年 / 8卷 / 08期

关键词：

CANAVAN DISEASE; N-ACETYLASPARTIC ACIDURIA; ASPARTOACYLASE DEFICIENCY;

D O I：

10.1007/BF00274411

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.

引用

页码：468 / 470

页数：3

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