Fucosidosis

external

• Synonyms

  • Alpha-fucosidase deficiency

• Effects

  • Mental retardation
  • Global developmental delay
  • Dysmorphic facies
  • Splenomegaly
  • Dysostosis multiplex
  • Angiokeratoma corporis diffusum
  • Abnormal white cell enzyme
  • Rosenthal fibres
  • Metabolic epilepsy

• Parents

  • Congenital immunodeficiency
  • Glycoproteinosis

• Description

  • "enzyme alpha-L-fucosidase deficiency Fucose-containing glycolipids and glycoproteins not broken down. Italy
  • Cuba"