Premium
3‐Methylglutaconic aciduria in “optic atrophy plus”
Author(s) -
Costeff Hanan,
Elpeleg Orly,
Apter Naomi,
Divry Priscille,
Gadoth Natan
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330117
Subject(s) - atrophy , medicine , ataxia , paresis , spastic quadriplegia , spastic , pediatrics , pathology , endocrinology , surgery , cerebral palsy , physical therapy , psychiatry
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.