NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2017-12-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/227 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850040356064722944 |
|---|---|
| author | A. S. Kotov K. V. Firsov |
| author_facet | A. S. Kotov K. V. Firsov |
| author_sort | A. S. Kotov |
| collection | DOAJ |
| description | Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular smooth muscle cells) with clinical manifestations affecting major organs including the central nervous system. Clinical onset of Fabry disease usually occurs in childhood, but many patients are diagnosed in adulthood. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 in the blood, urine and skin bioptates, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy may prevent complications of the disease. |
| format | Article |
| id | doaj-art-cc6e851ca1cc402992252fd1fe56aabb |
| institution | DOAJ |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2017-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-cc6e851ca1cc402992252fd1fe56aabb2025-08-20T02:56:07ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782017-12-01123515710.17650/2073-8803-2017-12-3-51-57160NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTSA. S. Kotov0K. V. Firsov1Moscow Regional Research and Clinical Institute named after M.F. VladimirskiyMoscow Regional Research and Clinical Institute named after M.F. VladimirskiyFabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular smooth muscle cells) with clinical manifestations affecting major organs including the central nervous system. Clinical onset of Fabry disease usually occurs in childhood, but many patients are diagnosed in adulthood. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 in the blood, urine and skin bioptates, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy may prevent complications of the disease.https://rjdn.abvpress.ru/jour/article/view/227anderson–fabry diseaseneurological manifestationsagalsidase alfaagalsidase beta |
| spellingShingle | A. S. Kotov K. V. Firsov NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS Русский журнал детской неврологии anderson–fabry disease neurological manifestations agalsidase alfa agalsidase beta |
| title | NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS |
| title_full | NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS |
| title_fullStr | NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS |
| title_full_unstemmed | NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS |
| title_short | NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS |
| title_sort | neurological manifestations of fabry disease in children and adolescents |
| topic | anderson–fabry disease neurological manifestations agalsidase alfa agalsidase beta |
| url | https://rjdn.abvpress.ru/jour/article/view/227 |
| work_keys_str_mv | AT askotov neurologicalmanifestationsoffabrydiseaseinchildrenandadolescents AT kvfirsov neurologicalmanifestationsoffabrydiseaseinchildrenandadolescents |