两兄弟患3-羟基异丁酸尿症。

3-Hydroxyisobutyric aciduria in two brothers.

作者信息

Sasaki M, Kimura M, Sugai K, Hashimoto T, Yamaguchi S

机构信息

Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

出版信息

Pediatr Neurol. 1998 Mar;18(3):253-5. doi: 10.1016/s0887-8994(97)00161-6.

DOI:10.1016/s0887-8994(97)00161-6

PMID:9568924

Abstract

Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are studied. The elder brother died of a ketoacidotic episode at the age of 4 years; the younger brother also manifested repeated episodes of ketoacidosis after 1 year of age. He is diagnosed as having 3HiB-uria by gas chromatography/mass spectometry analysis, using the unique fragment ions of 3HiB. Magnetic resonance imaging reveals focal white matter abnormalities. Protein restriction is effective for preventing the ketoacidotic episodes, although carnitine therapy seems less effective.

摘要

对两名患有3-羟基异丁酸尿症（3HiB-uria）的日本兄弟进行了研究。哥哥在4岁时死于一次酮症酸中毒发作；弟弟在1岁后也出现了反复的酮症酸中毒发作。通过气相色谱/质谱分析，利用3HiB独特的碎片离子，他被诊断为患有3HiB-uria。磁共振成像显示有局灶性白质异常。蛋白质限制对预防酮症酸中毒发作有效，尽管肉碱治疗似乎效果较差。