Schindler Disease

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Schindler Disease

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.

What other names do people use for Schindler Disease?

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

How Common is it?

Schindler Disease is very rare. Only a few individuals with each type of disorder have been identified .

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Medical & Research Information

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Patient Support Groups:

ISMRD is the international support group for this disorder
ISMRD’s Facebook page; this is our closed group for families only
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

Three Types of the Disease

Schindler Disease type I – also called infantile
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.

Schindler Disease type II – also called Kanzaki disease
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.

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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.
Medline Plus: Technical information about the genetics of Schindler Disease. MedlinePlus is an online health information resource for patients and their families and friends. MedlinePlus is a service of the National Library of Medicine (NLM), the world’s largest medical library, which is part of the National Institutes of Health (NIH).
Genetics Home Reference: Good information on Schindler Disease with many links to other sites where more information is available.
PubMed: Latest literature.

Meet People with Schindler Disease

Sorry, no Schindler Disease Personal or Family stories have been published yet.

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