Schindler Disease is caused by the deficient activity of the lysosomal enzyme, alpha-N-acetylgalactosaminidase (alpha-NAGA).A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder.
There are three different types of Schindler Disease. They are characterized by the age of onset and type of physical and mental manifestations.
Typically, normal mental and physical development occurs during the first months of life. Between approximately 8–15 months, there is a rapid and severe regression in skills. Individuals with infantile Schindler disease usually have severe mental retardation, blindness, and/or seizures. Death typically occurs within the first 3–4 years of life.
This is characterized by angiokeratomas (superficial blood vessel dilation over which a wartlike growth occur), mild intellectual impairment, and peripheral nerve problems.
- Schindler Disease type III is an intermediate and variable form of Schindler Disease. It can range from a more severe presentation with seizures and mental retardation to a less severe form with speech/language delays, a mild autistic-like presentation, and/or behavioral problems.
Schindler Disease is very rare. Only a few individuals with each type of disorder have been identified .
- • alpha-galactosidase B deficiency
- • alpha-galNAc deficiency, Schindler type
- • alpha N-acetylgalactosaminidase deficiency
- • alpha-NAGA deficiency
- • angiokeratome corporis diffusum-glycopeptiduria
- • GALB deficiency
- • Kanzaki disease
- • lysosomal glycoaminoacid storage disease – angiokeratoma corporis diffusum
- NAGA deficiency
- neuroaxonal dystrophy, Schindler type
- neuronal axonal dystrophy, Schindler type
Medical and Research Information
- • Gene Tests: Kanzaki Disease: A list of laboratories testing for Kanzaki Disease.
- • Gene Tests: Schindler Disease: A list of laboratories testing for Schindler Disease.
- • Clinical Trials: A registry of federally and privately supported clinical trials conducted in the United States and around the world. This site gives information about each trial’s purpose, who may participate and the location.
- • OMIM: Technical information about the genetics of Schindler Disease. OMIM is a site developed for scientists and medical specialists and contains both general and highly technical information. Access to this site is free.
- • Genetics Home Reference: Good information on Schindler Disease with many links to other sites where more information is available.
- • PubMed: Latest literature.
Patient Support Groups
- • ISMRD is the international support group for Schindler Disease
- • ISMRD’s Facebook page; this is our closed page for families
- • ISMRD’s public Facebook page for this disorder
- • Children Living with Inherited Metabolic Diseases (CLIMB) is based in the United Kingdom
- • National Organization for Rare Disorders based in the United States