L-alanine supplementation in late infantile glycogen storage disease type II

被引：22

作者：

Bodamer, OA

Haas, D

Hermans, MM

Reuser, AJ

Hoffmann, GF

机构：

[1] Univ Vienna, Dept Pediat, Childrens Hosp, A-1090 Vienna, Austria

[2] Heidelberg Univ, Childrens Hosp, Dept Pediat, D-6900 Heidelberg, Germany

[3] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

来源：

PEDIATRIC NEUROLOGY | 2002年 / 27卷 / 02期

关键词：

D O I：

10.1016/S0887-8994(02)00413-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy Was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II. (C) 2002 by Elsevier Science Inc. All rights reserved.

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页码：145 / 146

页数：2

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