Schindler disease

external

• Synonyms

  • Kanzaki disease
  • Alpha-N-acetylgalactosaminidase deficiency

• Effects

  • Congenital peripheral neuropathy
  • Angiokeratoma corporis diffusum
  • Mental retardation
  • Seizure
  • Abnormal white cell enzyme

• Parents

  • Lipid storage disorder

• Description

  • "deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase)
  • abnormal accumulation of glycosphingolipids. Tend to die within 4 years of birth. Also classified under Glycoproteinosis."