Enzyme Infusion Therapy of the Norrbottnian (Type 3) Gaucher Disease

Abstract

We report our experience from enzyme infusion therapy of eight patients with the Norrbottnian type of Gaucher disease (type 3) aged 4 to 42 years. All patients responded with increased well-being, decreased liver and spleen size and normalized hematological parameters. The children caught up in growth. No further neurological deterioration occurred and there were some indications of neurological improvement.

Circulating glucosylceramide concentrations seemed to be a possible parameter to monitor the dosage of infused enzyme. The circulating glucosylceramide levels responded better in non-splenectomized patients. Enzyme infusion therapy can be recommended in type 3 Gaucher disease.

Key words

Juvenile Gaucher disease type 3 - Enzyme infusion - Treatment - Splenectomy