A neonatal form of glycogen storage disease type IV
A neonatal form of glycogen storage disease type IV
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DOI：
10.1212/01.wnl.0000073141.61695.b3
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发表时间：
2003-08-12
期刊：
影响因子：
9.9
通讯作者：
Nishino, I
中科院分区：
文献类型：
--
作者：
Nambu, M;Kawabe, K;Nishino, I
我们报告一个新生儿糖原累积病IV型（GSD IV）的婴儿谁是严重的肌张力减退和心肌病检查。肌活检中有许多纤维具有抗胰蛋白酶的葡聚糖小体。肌肉中糖原分支酶（GBE 1）活性显著降低。该婴儿GBE 1基因开放阅读框内有一个纯合的单核苷酸缺失。
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.