Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts.
Clin Chim Acta
; 288(1-2): 31-5, 1999 Oct.
Article
en En
| MEDLINE
| ID: mdl-10529455
ABSTRACT
Specific activities of beta-D-hexosaminidase, alpha-D-mannosidase, beta-D-galactosidase and beta-D-glucuronidase were determined in fibroblasts of patients with writer's cramp and torticollis. These diseases show degenerative neurological disorders similar to those observed in lysosomal diseases. Hexosaminidase specific activities, determined using 4-methylumbelliferyl-beta-N-acetylglucopyranoside and 4-methylumbelliferyl-beta-N-acetylglucopyranoside-6-sulphate as substrates, were significantly higher in the fibroblasts of patients than in controls. No significant differences were observed in the specific activities of the other lysosomal enzymes. The increased hexosaminidase specific activities in torticollis and writer's cramp may be additional markers for these diseases.
Buscar en Google
Base de datos:
MEDLINE
Asunto principal:
Beta-N-Acetilhexosaminidasas
/
Trastornos Distónicos
Tipo de estudio:
Observational_studies
Idioma:
En
Revista:
Clin Chim Acta
Año:
1999
Tipo del documento:
Article