Enzyme Replacement Therapy for Gaucher Disease

• Published in: Blood Vol. 78; no. 5; pp. 1183 - 1189
• Main Authors: Beutler, E., Kay, A., Saven, A., Garver, P., Thurston, D., Dawson, A., Rosenbloom, B.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 01-09-1991; The Americain Society of Hematology
• Subjects: Adult; Biological and medical sciences; Child; Combined Modality Therapy; Female; Gaucher Disease - blood; Gaucher Disease - ethnology; Gaucher Disease - therapy; Glucosylceramidase - therapeutic use; Humans; Jews; Liver Function Tests; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Middle Aged; Platelet Count - drug effects; Splenectomy; Human; Replacement therapy; Gaucher disease; Enzyme; Lysosome; Glycosidase; Controlled therapeutic trial; Result
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V78.5.1183.1183

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 func tion tests, peripheral blood counts, and serum angiotensinconverting enzyme levels were documented. The two patients with pulmonary involvement manifested improvement in pulmonary function tests. Skeletal disease remained unchanged.