Browsing by Author "Torun, Yasemin Altuner"

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    Combination of Two Different Homozygote Mutations in Pompe Disease
    (2016) Arslan, Alev; Poyrazoglu, Hatice Gamze; Kiraz, Aslihan; Ozcan, Alper; Isik, Halid; Ergul, Ayse Betuel; Mungan, Neslihan Onenli; Streubel, Berthold; Ceylaner, Serdar; Torun, Yasemin Altuner; https://orcid.org/0000-0003-4444-0027; 26946079; V-1112-2019
    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.