Arslan, AlevPoyrazoglu, Hatice GamzeKiraz, AslihanOzcan, AlperIsik, HalidErgul, Ayse BetuelMungan, Neslihan OnenliStreubel, BertholdCeylaner, SerdarTorun, Yasemin Altuner2023-06-202023-06-2020161328-8067http://hdl.handle.net/11727/9697Pompe 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.enginfo:eu-repo/semantics/closedAccesshypertrophic cardiomyopathyinfantile Pompe diseasenovel mutationArticle5832412430003723438000142-s2.0-84960100185