Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience

Kose M., Kose E., Kagnici M., Unalp A., Yilmaz U., Yilmaz M. M., ...More

MEDICAL JOURNAL OF BAKIRKOY, vol.16, no.1, pp.49-55, 2020 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.5222/bmj.2020.91855
  • Journal Name: MEDICAL JOURNAL OF BAKIRKOY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.49-55
  • Keywords: Pompe disease, hypertrophic cardiomyopathy, hypotonicity, DISEASE TYPE-II, GENOTYPE-PHENOTYPE CORRELATION, ALGLUCOSIDASE ALPHA, SPANISH PATIENTS, MUTATIONS, FREQUENCY, SURVIVAL, THERAPY, GENE
  • Dokuz Eylül University Affiliated: Yes

Abstract

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid alpha-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease.