Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
Muscle Nerve
; 29(3): 440-2, 2004 Mar.
Article
em En
| MEDLINE
| ID: mdl-14981745
ABSTRACT
Alpha-glucosidase deficiency is a rare cause of muscle disease in adults. The diagnosis relies on recognition of the salient clinical features and determination of significantly reduced alpha-glucosidase (GAA) activity. Lymphocytes are the usual tissue for diagnostic enzymology; discrepant results from analyses of different tissues are unusual. We report a patient with clinical, electromyographic, and biopsy findings indicative of alpha-glucosidase deficiency whose muscle and lymphocyte enzyme results were markedly discrepant on multiple analyses. As a result, we conclude that all patients with suspected alpha-glucosidase deficiency and a normal lymphocyte GAA assay should also have a determination of GAA activity in muscle or skin fibroblasts.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
/
Glucana 1,4-alfa-Glucosidase
/
Músculo Esquelético
/
Debilidade Muscular
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article