Abstract 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.
YUAN Shan,JIANG Jie,ZHA Lu-Ting et al. Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II:an analysis of 3 cases[J]. CJCP, 2017, 19(10): 1092-1097.
YUAN Shan,JIANG Jie,ZHA Lu-Ting et al. Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II:an analysis of 3 cases[J]. CJCP, 2017, 19(10): 1092-1097.
Kishnani PS, Howell RR. Pompe disease in infants and children[J]. J Pediatr, 2004, 144(5 Suppl):S35-S43.
[2]
Liu Y, Yang Y, Wang B, et al. Infantile Pompe disease:a case report and review of the Chinese literature[J]. Exp Ther Med, 2016, 11(1):235-238.
[3]
Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease[J]. J Pediatr, 2006, 148(5):671-676.
[4]
Chan J, Desai AK, Kazi ZB, et al. The emerging phenotype of late-onset Pompe disease:a systematic literature review[J]. Mol Genet Metab, 2017, 120(3):163-172.
[5]
Chu YP, Sheng B, Lau KK, et al. Clinical manifestation of late onset Pompe disease patients in Hong Kong[J]. Neuromuscul Disord, 2016, 26(12):873-879.
[6]
Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline[J]. Genet Med, 2006, 8(5):267-288.
[7]
Pérez-López J, Selva-O'Callaghan A, Grau-Junyent JM, et al. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia[J]. Mol Genet Metab, 2015, 114(4):580-583.
[8]
Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness[J]. Neurology, 2016, 87(3):295-298.
[9]
Hermans MM, van Leenen D, Kroos MA, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type Ⅱ[J]. Hum Mutat, 2004, 23(1):47-56.
Shieh JJ, Lin CY. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type Ⅱ[J]. Biochem Biophys Res Commun, 1996, 219(2):322-326.
Shieh JJ, Lin CY. Frequent mutation in Chinese patients with infantile type of GSD Ⅱ in Taiwan:evidence for a founder effect[J]. Hum Mutat, 1998, 11(4):306-312.
[14]
Montalvo AL, Cariati R, Deganuto M, et al. Glycogenosis type Ⅱ:identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease[J]. Mol Genet Metab, 2004, 81(3):203-208.
[15]
Herzog A, Hartung R, Reuser AJ, et al. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients:molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations[J]. Orphanet J Rare Dis, 2012, 7:35.
[16]
Yang CF, Yang CC, Liao HC, et al. Very early treatment for infantile-onset Pompe disease contributes to better outcomes[J]. J Pediatr, 2016, 169:174-180.e1.
[17]
Johnson EM, Roberts M, Mozaffar T, et al. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease[J]. Neuromuscul Disord, 2016, 26(2):136-145.
