Çim, Abdullah Dicle University - School of Medicine - Department of Medical Genetics, Turkey , Coşkun, Salih Dicle University - School of Medicine - Department of Medical Genetics, Turkey , Yılmaz, Ahmet Dicle University - School of Medicine - Department of Family Medicine, Turkey , Onay, Hüseyin Ege University - School of Medicine - Department of Medical Genetics, Turkey

Pompe disease: A case report

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Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA). There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.

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Pompe disease , GSD2 , GAA deficiency , high , throughput DNA sequencing

Dicle Medical Journal

521