Combination of two different homozygote mutations in Pompe disease

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

PEDIATRICS INTERNATIONAL, cilt.58, sa.3, ss.241-243, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/ped.12873
  • Sayfa Sayıları: ss.241-243


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.