Combination of two different homozygote mutations in Pompe disease
| Autor: | Berthold Streubel, Ayse Betul Ergul, Alper Özcan, Hatice Gamze Poyrazoğlu, Yasemin Altuner Torun, Halid Işık, Neslihan Önenli Mungan, Serdar Ceylaner, Aslihan Kiraz, Alev Arslan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Glycogen accumulation business.industry Metabolic disorder Clinical course Disease medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology medicine.anatomical_structure Internal medicine Lysosome Pediatrics Perinatology and Child Health medicine business 030217 neurology & neurosurgery |
| Zdroj: | Pediatrics International. 58:241-243 |
| ISSN: | 1328-8067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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