Gaucher disease

external

• Synonyms

  • Gaucher syndrome
  • Glucocerebrosidase deficiency
  • Beta-glucocerebrosidase deficiency
  • b-glucocerebrosidase deficiency

• Effects

  • Splenomegaly
  • Hepatomegaly
  • Abnormal white cell enzyme
  • Pinguecula

• Parents

  • Sphingolipidosis

• Description

  • "deficiency of enzyme glucocerebrosidase results in accumulation of lipids (glucocerebroside) in bone marrow
  • spleen and liver "