Enzyme replacement therapy for Gaucher disease.
Four patients with moderately severe type I Gaucher disease were treated with commercially available mannose terminated glucocerebrosidase (Ceredase; Genzyme, Boston, MA) for up to 13 months. The enzyme was administered at the rate of three to four times weekly at one fourth the total recommended dosage, greatly decreasing the cost. Marked regression of hepatomegaly and improvement in liver function tests, peripheral blood counts, and serum angiotensin-converting enzyme levels were documented. The two patients with pulmonary involvement manifested improvement in pulmonary function tests. Skeletal disease remained unchanged.
Beutler
E
E
Department of Molecular and Experimental Medicine, Research Institute of Scripps Clinic, La Jolla, CA 92037.
Kay
A
A
Saven
A
A
Garver
P
P
Thurston
D
D
Dawson
A
A
Rosenbloom
B
B
D000328:Adult; D002648:Child; D003131:Combined Modality Therapy; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000208:ethnology / Q000628:therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007585:Jews; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010976:Platelet Count / Q000187:drug effects; D013156:Splenectomy
C070292:alglucerase; D005962:Glucosylceramidase