Combination of two different homozygote mutations in Pompe disease

ARSLAN A., Poyrazoglu H. G., Kiraz A., Ozcan A., Isik H., Ergul A. B., ...More

PEDIATRICS INTERNATIONAL, vol.58, no.3, pp.241-243, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.1111/ped.12873
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.241-243
  • Erciyes University Affiliated: Yes


Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13T>G homozygote and c.1856G>A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.