title: Juvenile galactosialidosis in a white male: a new variant.
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.
authors.affiliation: Department of Medical Genetics, Grace Hospital, Vancouver, British Columbia, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
authors.forename: J
authors.initials: J
authors.lastname: Lewis
authors.forename: J E
authors.initials: JE
authors.lastname: Dimmick
authors.forename: A Q
authors.initials: AQ
authors.lastname: McCormick
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D019158:N-Acetylneuraminic Acid; D009439:Neuraminidase / Q000172:deficiency*; D012794:Sialic Acids / Q000652:urine; D012867:Skin / Q000648:ultrastructure; D001616:beta-Galactosidase / Q000172:deficiency*
chemical_list: D012794:Sialic Acids; D005696:Galactosidases; D009439:Neuraminidase; D001616:beta-Galactosidase; D019158:N-Acetylneuraminic Acid