Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening...
| Autores: | , , , , , |
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| Tipo de documento: | artigo |
| Estado: | Versão publicada |
| Data de publicação: | 2018 |
| País: | Brasil |
| Recursos: | Universidade Federal de São Paulo (UNIFESP) |
| Repositório: | Repositório Institucional da UNIFESP |
| Idioma: | inglês |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/55671 |
| Acesso em linha: | http://dx.doi.org/10.1590/0004-282X20180018 https://repositorio.unifesp.br/handle/11600/55671 |
| Access Level: | Acceso aberto |
| Palavra-chave: | glycogen storage disease type II muscular weakness muscle diseases doença de depósito de glicogênio tipo II debilidade muscular doenças musculares |
| Resumo: | Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42 |
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