title: [Schindler disease/Kanzaki disease].
abstract: Schindler disease and Kanzaki disease are caused by a deficient lysosomal enzyme, alpha-N-acetylgalactosaminidase (E.C.3.2.1.49). Two German children were first reported in 1987 and other two Dutch children were recently reported in 1993. These children were very similar clinically and characterized by maked neuroaxonal dystrophy of an infantile onset. This disease (type 1) was named Schindler disease. On the other hand, an adult patient with profuse angiokeratoma corporis diffusum but minimum involvement in nervous system was reported in 1987 from Japan. This disease (type 2) was named Kanzaki disease (Mckusick catalog No. 104170). Molecular analyses of these diseases revealed one each point mutation in the encoding gene. Clinical, ultrastructural and molecular studies of these disease were described.
authors.affiliation: Department of Dermatology, Kagoshima University Faculty of Medicine.
authors.forename: T
authors.initials: T
authors.lastname: Kanzaki
mesh_terms: D000328:Adult; D002648:Child; D006596:Hexosaminidases / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000209:etiology / Q000473:pathology; D008247:Lysosomes / Q000201:enzymology; D009420:Nervous System / Q000473:pathology; D017354:Point Mutation
chemical_list: D006596:Hexosaminidases