Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan
Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age. Cases with onset after the 1st year of life are attributed to late-onset Pompe disease (LOPD)....
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2018-04-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/264 |
| Summary: | Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age. Cases with onset after the 1st year of life are attributed to late-onset Pompe disease (LOPD). LOPD has a very wide age range when clinical manifestations appear which significantly complicates diagnosis in adults. A case of verified Pompe disease in the Republic of Kazakhstan is presented. A chronology of clinical manifestations and symptoms, results of paraclinical examinations helping to suspect LOPD and verify the diagnosis by decreased activity of acid α-glucosidase in dry blood spot are described. |
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| ISSN: | 2222-8721 2413-0443 |