title: A family with beta-galactosidase deficiency: three adults with atypical clinical patterns.
abstract: Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of beta-galactosidase activity, more profound with GM1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 GM1 gangliosidosis, none had bony abnormalities.
authors.forename: T
authors.initials: T
authors.lastname: Mutoh
authors.forename: I
authors.initials: I
authors.lastname: Sobue
authors.forename: M
authors.initials: M
authors.lastname: Naoi
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuoka
authors.forename: K
authors.initials: K
authors.lastname: Kiuchi
authors.forename: K
authors.initials: K
authors.lastname: Sugimura
mesh_terms: D000328:Adult; D001808:Blood Vessels / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005654:Fundus Oculi; D005696:Galactosidases / Q000172:deficiency*; D005733:Gangliosidoses / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000166:cytology / Q000201:enzymology; D013497:Sural Nerve / Q000648:ultrastructure; D001616:beta-Galactosidase / Q000172:deficiency* / Q000378:metabolism
chemical_list: D005696:Galactosidases; D001616:beta-Galactosidase