3-METHYLGLUTACONIC ACIDURIA IN OPTIC ATROPHY PLUS

被引:36
|
作者
COSTEFF, H
ELPELEG, O
APTER, N
DIVRY, P
GADOTH, N
机构
[1] SHAARE ZEDEK MED CTR,METAB LAB,IL-91000 JERUSALEM,ISRAEL
[2] TEL AVIV UNIV,SACKLER FAC MED,IL-69978 TEL AVIV,ISRAEL
[3] HOP DEBROUSSE,SERV BIOCHIM,F-69005 LYON,FRANCE
[4] BEILINSON MED CTR,IL-49100 PETAH TIQWA,ISRAEL
关键词
D O I
10.1002/ana.410330117
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3-methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown. We recommend that patients with early optic atrophy, and especially those with motor dysfunction, be examined for this organic aciduria.
引用
收藏
页码:103 / 104
页数:2
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