Late-onset Pompe disease: preliminary results of enzyme replacement therapy
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2019-07-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/326 |
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| author | L. P. Smertina F. I. Ausheva A. V. Gryaznov D. A. Svetlakov L. N. Kolbasin |
| author_facet | L. P. Smertina F. I. Ausheva A. V. Gryaznov D. A. Svetlakov L. N. Kolbasin |
| author_sort | L. P. Smertina |
| collection | DOAJ |
| description | Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results. |
| format | Article |
| id | doaj-art-8201702c85ed42e8b8237c24b190c6e3 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2019-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-8201702c85ed42e8b8237c24b190c6e32025-08-20T03:38:15ZrusABV-pressНервно-мышечные болезни2222-87212413-04432019-07-0192434910.17650/2222-8721-2019-9-2-43-49240Late-onset Pompe disease: preliminary results of enzyme replacement therapyL. P. Smertina0F. I. Ausheva1A. V. Gryaznov2D. A. Svetlakov3L. N. Kolbasin4Surgut State University Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “District Cardiological Dispensary” Center for Diagnostic and Cardiovascular Surgery “Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.https://nmb.abvpress.ru/jour/article/view/326late-onset pompe diseaseenzyme replacement therapymyozymegaa genealglucosidase alfab acidic maltase |
| spellingShingle | L. P. Smertina F. I. Ausheva A. V. Gryaznov D. A. Svetlakov L. N. Kolbasin Late-onset Pompe disease: preliminary results of enzyme replacement therapy Нервно-мышечные болезни late-onset pompe disease enzyme replacement therapy myozyme gaa gene alglucosidase alfab acidic maltase |
| title | Late-onset Pompe disease: preliminary results of enzyme replacement therapy |
| title_full | Late-onset Pompe disease: preliminary results of enzyme replacement therapy |
| title_fullStr | Late-onset Pompe disease: preliminary results of enzyme replacement therapy |
| title_full_unstemmed | Late-onset Pompe disease: preliminary results of enzyme replacement therapy |
| title_short | Late-onset Pompe disease: preliminary results of enzyme replacement therapy |
| title_sort | late onset pompe disease preliminary results of enzyme replacement therapy |
| topic | late-onset pompe disease enzyme replacement therapy myozyme gaa gene alglucosidase alfab acidic maltase |
| url | https://nmb.abvpress.ru/jour/article/view/326 |
| work_keys_str_mv | AT lpsmertina lateonsetpompediseasepreliminaryresultsofenzymereplacementtherapy AT fiausheva lateonsetpompediseasepreliminaryresultsofenzymereplacementtherapy AT avgryaznov lateonsetpompediseasepreliminaryresultsofenzymereplacementtherapy AT dasvetlakov lateonsetpompediseasepreliminaryresultsofenzymereplacementtherapy AT lnkolbasin lateonsetpompediseasepreliminaryresultsofenzymereplacementtherapy |