Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 2
Definition
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
Also known as adult-onset Alpha-N-acetylgalactosaminidase deficiency, Kanzaki disease, NAGA deficiency type 2, Schindler disease type 2 — per MONDO