Schindler disease

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

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.