Schindler disease

Schindler disease, also known as Kanzaki disease and as alpha-N-acetylgalactosaminidase deficiency, is a rare disease in humans. It is a lysosomal storage disorder caused by a shortage of the enzyme alpha-N-acetylgalactosaminidase, which results from mutations in the NAGA gene on chromosome 22. Without enough of the enzyme, glycoproteins and glycosphingolipids build up inside lysosomes throughout the body, and this accumulation of sugar-containing molecules produces the clinical features of the disorder. It is inherited in an autosomal recessive pattern, which means a person must receive an abnormal copy of the gene from both parents to have the disease.