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.