Nambu M, Kawabe K, Fukuda T, Okuno T B, Ohta S, Nonaka I, Sugie H, Nishino I
Department of Pediatrics, Tenri Hospital, Nara, Japan.
Neurology. 2003 Aug 12;61(3):392-4. doi: 10.1212/01.wnl.0000073141.61695.b3.
We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.
我们报告了一名患有IV型新生儿糖原贮积病（GSD IV）的婴儿，该婴儿因严重肌张力减退和心肌病接受检查。肌肉活检显示有许多含有抗淀粉酶多聚葡萄糖体的纤维。肌肉中的糖原分支酶（GBE1）活性明显降低。该婴儿在GBE1基因的开放阅读框中有一个纯合单核苷酸缺失。
