Enzyme replacement in Fabry's disease, an inborn error of metabolism.

Abstract

Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on day 10 after infusion. Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues.

• Authors: C A Mapes, R L Anderson, C C Sweeley, R J Desnick, W Krivit
• Journal: Science (New York, N.Y.) (Science) Vol. 169 Issue 3949 Pg. 987-9 (Sep 04 1970) ISSN: 0036-8075 [Print] United States
• PMID: 4914726 (Publication Type: Clinical Trial, Journal Article)

Chemical References

• Cerebrosides
• Glycolipids
• Factor VIII
• Sulfatases
• Glycoside Hydrolases

Topics

• Adolescent
• Adult
• Angiokeratoma (enzymology)
• Arthritis (enzymology)
• Cerebrosides (blood, therapeutic use)
• Child
• Child, Preschool
• Clinical Trials as Topic
• Diffuse Cerebral Sclerosis of Schilder (enzymology)
• Factor VIII (metabolism)
• Female
• Gaucher Disease (enzymology)
• Glycolipids (blood, metabolism)
• Glycoside Hydrolases (blood, therapeutic use)
• Humans
• Lipid Metabolism, Inborn Errors (drug therapy, enzymology)
• Lipidoses (enzymology)
• Liver (enzymology)
• Male
• Middle Aged
• Plasma (enzymology)
• Sulfatases (therapeutic use)
• von Willebrand Diseases (drug therapy)