非肉碱缺乏型脂质贮积性肌病中肉碱治疗成功的案例

Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy.

作者信息

Sengers R C, Bakkeren J A, Trijbels J M, Stadhouders A M, Egberink G J, ter Laak H J, Jaspar H J

出版信息

Eur J Pediatr. 1980 Dec;135(2):205-9. doi: 10.1007/BF00441643.

Abstract

An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D, L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.

摘要

一名18个月大的男孩出现全身肌张力减退、肌力下降、运动发育迟缓及生长发育迟缓。二羧酸排泄增加。肌电图正常。肌肉活检显示为脂质贮积性肌病。每日口服2克D，L-肉碱导致：（1）生长速度加快；（2）肌力增加；（3）纤维体积中脂质成分减少。治疗前活检肌肉的肉碱含量似乎正常。