[Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Ceredase)]

Author(s): Belmatoug N, Azorin M, Huten D, de Villemeur TB, Carbon C

Affiliation(s): Service de medecine interne du Pr C Carbon, Paris.

Publication date & source: 1993, Rev Med Interne., 14(10):996.

Publication type: Case Reports; English Abstract

Gaucher's disease is caused by a deficiency of glucocerebrosidase. Enzyme replacement therapy with glucocerebrosidase (Ceredase) is available in France since 1991. We report the clinical effectiveness in a woman with type 1 Gaucher's disease treated with the enzyme for one year. Hepatomegaly regressed, bone pain decreased but improvement of severe skeletal manifestations were slow and incomplete.