Schindler disease

Last revised by Yusra Sheikh on 21 Nov 2019

Schindler disease is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B).

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)
  • type III
    • intermediate in severity
    • wide range of symptoms and can begin in infancy or childhood 
    • neurodevelopmental and neuropsychiatric presentation

First described by Detlev Schindler in 1988.

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