Combination of two different homozygote mutations in Pompe disease
PEDIATRICS INTERNATIONAL, cilt.58, sa.3, ss.241-243, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 58 Sayı: 3
- Basım Tarihi: 2016
- Doi Numarası: 10.1111/ped.12873
- Dergi Adı: PEDIATRICS INTERNATIONAL
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.241-243
- Anahtar Kelimeler: hypertrophic cardiomyopathy, infantile Pompe disease, novel mutation
- Erciyes Üniversitesi Adresli: Hayır
Özet
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.