Combination of Two Different Homozygote Mutations in Pompe Disease
Tarih
2016Yazar
Arslan, Alev
Poyrazoglu, Hatice Gamze
Kiraz, Aslihan
Ozcan, Alper
Isik, Halid
Ergul, Ayse Betuel
Mungan, Neslihan Onenli
Streubel, Berthold
Ceylaner, Serdar
Torun, Yasemin Altuner
Üst veri
Tüm öğe kaydını gösterÖzet
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.