Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N
Neuropediatric Unit, Loewenstein Hospital, Raanana, Israel.
Ann Neurol. 1993 Jan;33(1):103-4. doi: 10.1002/ana.410330117.
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.
贝尔氏综合征由隐性遗传的婴儿型视神经萎缩以及慢性神经功能障碍组成，如共济失调、锥体外系功能障碍和青少年痉挛性轻瘫。该综合征在伊拉克犹太人中相对常见。在我们的研究中，18名此类患者接受了代谢研究。所有18名患者的尿液中3 - 甲基戊二酸排泄异常升高。基本的酶缺陷尚不清楚。我们建议对早期视神经萎缩患者，尤其是有运动功能障碍的患者进行这种有机酸尿症的检查。
