Search our Database of Scientific Publications and Authors

I’m looking for a

    Details and Download Full Text PDF:
    [Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

    Zhongguo Dang Dai Er Ke Za Zhi 2017 Oct;19(10):1092-1097
    Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha 410013, China.
    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.

    Similar Publications

    [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
    Zhonghua Er Ke Za Zhi 2017 Jun;55(6):423-427
    Department of Pediatric Endocrinology and Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
    To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients. Read More
    Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
    Ann Clin Lab Sci 2013 ;43(3):311-6
    Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, 135-710, Korea.
    Background: Glycogen storage disease II (GSD II) is caused by a deficiency of acid alpha-1,4-glucosidase and mutations in the GAA gene encoding this enzyme which are responsible for the pathogenesis of GSD II. Our goal was to determine the mutational spectrum in the GAA gene in Korean patients with GSD II.

    Methods: Three patients with GSD II were recruited based on clinical and biochemical findings. Read More
    [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
    Zhongguo Dang Dai Er Ke Za Zhi 2015 Nov;17(11):1228-31
    Department of Pediatrics, Second Hospital of Jilin University, Changchun 130041, China.
    The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to analyze mutations in GAA gene. Read More
    Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
    Hum Mol Genet 1998 Oct;7(11):1695-702
    Laboratoire de Génétique, Université René Descartes (Paris V), CHU Cochin-Port Royal.
    Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by defects in the lysosomal acid alpha-glucosidase (GAA) gene. We investigated the feasibility of using a recombinant adenovirus containing the human GAA gene under the control of the cytomegalovirus promoter (AdCMV-GAA) to correct the enzyme deficiency in different cultured cells from patients with the infantile form of GSD II. In GAA-deficient fibroblasts infected with AdCMV-GAA, transduction and transcription of the human transgene resulted in de novo synthesis of GAA protein. Read More