Kanzaki disease, also known as alpha-N-acetylgalactosaminidase (NAGA) deficiency, is a rare autosomal recessive lysosomal storage disorder characterized by late-onset angiokeratoma corporis diffusum and mild intellectual impairment. It is clinically heterogeneous and has three main phenotypes:
- Type I presents as neuroaxonal dystrophy in childhood
- Type II is associated with angiokeratomas as a disease in adulthood (analogous to Fabry disease). Continued mild intellectual impairment
- Type III is an intermediate disease with mild to moderate neurological manifestations.