Schindler disease is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B).
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Epidemiology
It is a rare disease with autosomal recessive inheritance.
Clinical presentation
Age and severity of presentation depends on the type of Schindler disease:
-
type I (infantile type)
- most severe form
- infants stop developing new skills by age 8-15 months
- affected individuals develop seizures and blindness as disease progresses
- eventual demise in childhood
-
type II (also known as Kanzaki disease)
- adult-onset
- milder form
- mild cognitive impairment and sensorineural hearing loss
-
type III
- intermediate in severity
- wide range of symptoms and can begin in infancy or childhood
- neurodevelopmental and neuropsychiatric presentation
History and etymology
First described by Detlev Schindler in 1988.
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