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糖原累积病Ⅱ型2例家系报告并文献复习

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摘要 糖原累积病（glycogen storage disease,GSD）是一组与糖原合成和分解代谢异常有关的遗传代谢性疾病。根据所缺乏酶的不同,目前将GSD分为12型。糖原累积病Ⅱ型（glycogen storage disease typeⅡ,GSDⅡ）,又称Pompe病,
作者 张珍珍 苗晶 李香丽 赵芬 于雪凡
机构地区 吉林大学白求恩第一医院神经内科
出处 《中风与神经疾病杂志》 CAS 北大核心 2015年第4期367-368,共2页 Journal of Apoplexy and Nervous Diseases
关键词 糖原累积病 文献复习 家系报告 Ⅱ型 遗传代谢性疾病 Pompe病 代谢异常 糖原合成
分类号 R746 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献13

  • 1American Association of Neuromuscular & Eleetrodiagnostic Medi- cine. Diagnostic criteria for late-onset ( childhood and adult) Pompe disease[ J]. Muscle Nerve ,2009,40 : 149 - 160.
  • 2单岩东,王朝东,张昆南.Ⅱ型糖原累积病的研究进展[J].中国临床神经科学,2007,15(2):203-207. 被引量：14
  • 3Kroos M, Hoogeveen-Westerveld M, Michelakakis H, et al. Upadate of the pompe disease mutation database with 60 novel GAA sequence va- riants and additional studies on the functional effect of 34 previously reported variants[ J]. Hum Murat ,2012,33 (8) : 1161 - 1165.
  • 4Becker JA, Vlaeh J, Rzben N, et al. The African origin of the common mutation in African American patients with glycogen storage disease type II[ J]. Am J Hum Genet, 1998,62(4) :991 -994.
  • 5Tsujino S, Huie M, Kanazawa N, et al. Frequent mutations in Japanese patients with acid maltase deficiency[ J ]. Neuromuscul Disord ,2000, 10(8) :599 -603.
  • 6Park HD,Lee DH,Choi TY ,et al. Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean pa- tients[J]. Ann Clin Lab Sci,2013,43(3) :311 -316.
  • 7Wan L,Lee CC ,Hsu CM ,et al. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II[ J ]. J Neurel,2008,255 (6) : 831 - 838.
  • 8Kroos MA, Mullaart RA, Van Vliet L, et al. p. [ G576S; E689K ] : pathogenic combination or polymorphism in Pompe disease[ J]. Eur J Hu Genet,2008,16 (8) :875 - 879.
  • 9Pittis MG, Donnarumma M, Montalvo AL, et al. Molecular and func- tional characterization of eight novel GAA mutations in Italian infants with Pompe disease [ J ]. Hum Mutat, 2008,29 ( 6 ) :27 - 36.
  • 10Winkel LP, Van den Hout JM, Kamphoven JH,et al. Enzyme re- placement therapy in late-onset Pompe' s disease : a three-year fol- low-up [ J ]. Ann Neuro1,2004,55 (4) :495 - 502.

二级参考文献35

  • 1Kishnani PS,Howell RR.Pompe disease in infants and children[J].J Pediatr,2004,144:35-43
  • 2Ausems MG,Verbiest J,Hermans MP,et al.Frequency of glycogen storage disease type Ⅱ in the Netherlands:implications for diagnosis and genetic counseling[J].Eur J Hum Genet,1999,7:713-716
  • 3Martiniuk F,Chen A,Mack A,et al.Carrier frequency for glycogen storage disease type Ⅱ in New York and estimates of affected individuals born with the disease[J].Am J Med Genet,1998,79:69-72
  • 4Hirschhorn R,Reuser AJJ.Glycogen storage disease type Ⅱ:acid alpha-glucosidase (acid maltase) deficiency[M].In:Beaudet A,Scriver C,Sly Wet al.eds.The Metabolic and Molecular Bases of Inherited Disease.NewYork:McGraw Hill,2001:3389-3420
  • 5Hermans MM,de Graaff E,Kroos MA,et al.The conservative substitution Asp-645-Glu in lysosomal alpha-glucosidase affects transport and phosph-orylation of the enzyme in an adult patient with glycogen storage disease type Ⅱ[J].Biochem J,1993,289:687-693
  • 6Ko TM,Hwu WL,Lin YW,et al.Molecular genetic study of Pompe disease in Chinese patients in Taiwan[J].Hum Mutat,1999,13:380-384
  • 7Hirschhorn R,Huie ML.Frequency of mutations for glycogen storage disease type Ⅱ in different populations:the DT525 and Dexon 18 mutations are not generally 'common' in white populations[J].J Med Genet,1999,36:85-86
  • 8Huie ML,Chen AS,Tsujino S,et al.Aberrant splicing in adult onset glycogen storage disease type Ⅱ (GSD Ⅱ):molecular identification of an IVS1 (-13T → G) mutation in a majority of patients and a novel IVS10 (+ 21GT → CT) mutation[J].Hum Mol Genet,1994,3:2231-2236
  • 9Kroos MA,van Leenen D,Verbiest J,et al.Glycogen storage disease type Ⅱ:Identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene[J].Clin Genet,1998,53:379-382
  • 10Adams EM,Becker JA,Griffith L,et al.Glycogenosis type Ⅱ:a juvenile specific mutation with an unusual splicing pattern and a shared mutation in African Americans[J].Hum Mutat,1997,10:128-134

共引文献13

中风与神经疾病杂志
2015年 第4期

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