Makale detayı · 2016
Combination of two different homozygote mutations in Pompe disease
YÖKSİS
OpenAlex
SJR Q3
JCR Q4
Atıf 4
Yüzdelik 63.7%
FWCI 0.37
- Yıl
- 2016
- ISSN
1328-8067- Tür
- article
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Özet
İngilizce (OpenAlex)
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.32-13 T > 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.
Konular
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Biochemical and Molecular Research
Birincil konu Lysosomal Storage Disorders Research