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Case Reports
. 2017 Oct;19(10):1092-1097.
doi: 10.7499/j.issn.1008-8830.2017.10.012.

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases]

[Article in Chinese]
Shan Yuan  1 , Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang
Affiliations
Case Reports

[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases]

[Article in Chinese]
Shan Yuan et al. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct.

Abstract
in English, Chinese

Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy. The late-onset patients (aged 8 years and 13 years respectively) showed persistently elevated liver enzymes; one of them had recurrent respiratory tract infection and restrictive ventilation disorder, and the other case showed significantly increased creatase but normal electromyographic findings. Peripheral blood genetic testing for GAA gene showed six pathogenic mutations in the three cases, and the mutations c.2738C>T and c.568C>T had not been reported. Therefore, peripheral blood genetic testing for GAA gene is an effective diagnostic method.

糖原贮积症Ⅱ型（GSDⅡ）是一种主要由酸性α-葡萄糖苷酶（GAA）基因突变引起的常染色体隐性遗传病，主要累及心脏、骨骼肌等脏器。本文报道3例经GAA基因分析确诊的GSDⅡ患儿的临床特点和基因突变结果，1例为婴儿型，年龄为4个月，患儿表现为体重不增，呼吸困难，肌张力低，ALT、CK升高，心脏彩超示肥厚型心肌病。2例为晚发型，年龄分别为8岁、13岁，晚发型患儿均表现为持续肝酶升高，其中1例患儿伴反复呼吸道感染，肺功能示限制性通气障碍；另1例患儿伴肌酶升高明显，而肌电图正常。外周血GAA基因检查结果显示3例患儿中共检测出6种致病突变，其中c.2738C > T、c.568C > T为未见报道的新突变。外周血GAA基因检测是有效的诊断该疾病的方法。

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Figures

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1
例2患儿及其父母GAA基因c.2738C > T突变位点测序图
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例3患儿及其父母GAA基因c.568C > T突变位点测序图
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野生型和突变型GAA 3D模型
See this image and copyright information in PMC

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