Juvenile galactosialidosis in a white male: a new variant.
Am J Med Genet
; 31(4): 887-901, 1988 Dec.
Article
en En
| MEDLINE
| ID: mdl-3149149
ABSTRACT
We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.
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Banco de datos:
MEDLINE
Asunto principal:
Beta-Galactosidasa
/
Galactosidasas
/
Neuraminidasa
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Año:
1988
Tipo del documento:
Article