Kanzaki disease E75.2

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.

The disease is caused by a homozygous mutation in the gene for alpha-N-galactosaminidase (NAGA) on chromosome 22q13.

1. Chabás A et al. (1994) Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. J Inherit Metab Dis 17:724-731
2. Desnick RJ et al. (1990) Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit Metab Dis 13:549-559.
3. Ferreira CR et al (2017) Lysosomal storage diseases. Transl Sci Rare Dis 2(1-2):1-71.
4. Kanzaki T et al. (1991) Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. J Clin Invest 88:707-711.