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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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It is a rare disease with autosomal recessive inheritance.
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)
- milder form
- mild cognitive impairment and sensorineural hearing loss
- 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.
- 1. Wang AM, Schindler D, Desnick R. Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. (1990) The Journal of Clinical Investigation. 86 (5): 1752. doi:10.1172/JCI114901 - Pubmed
- 2. Cantz M, Ulrich‐Bott B. Disorders of glycoprotein degradation. (1990) Journal of Inherited Metabolic Disease. 13 (4): 523. doi:10.1007/BF01799510 - Pubmed