Tags: Disease.
Schindler disease also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a rare congenital metabolic disorder in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase) attributable to mutations in the NAGA gene on chromosome 22 which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body.