LATE-ONSET FORM OF PARTIAL N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY

被引：20

作者：

ELPELEG, ON

COLOMBO, JP

AMIR, N

BACHMANN, C

HURVITZ, H

机构：

[1] BIKUR CHOLIM HOSP,NEUROPAEDIAT UNIT,JERUSALEM,ISRAEL

[2] UNIV BERN,INSELSPITAL,DEPT CLIN CHEM,CH-3000 BERN,SWITZERLAND

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 149卷 / 09期

关键词：

Hyperammonaemia; N-acetylglutamate synthetase deficiency;

D O I：

10.1007/BF02034751

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and a female sister had died following a similar clinical course. This is the first report of late-onset N-acetylglutamate synthetase deficiency. An autosomal-recessive mode of inheritance is suggested. © 1990 Springer-Verlag.

引用

页码：634 / 636

页数：3

共 9 条

[1]

BACHMANN C, 1980, J CLIN CHEM CLIN BIO, V18, P293

[2]

BACHMANN C, 1981, NEW ENGL J MED, V304, P543

[3] N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY, A 2ND PATIENT [J].