Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.
alpha-Acetylglucosaminidase, purified from human placent, corrected the defect in mucopolysaccharide degradation when added to culture fibroblasts from patients with Sanfilippo disease type B. A small cellular concentration of enzyme gave a large corrective effect. The half-life of disappearance of enzyme activity was 4 to 7 days.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000188:drug therapy / Q000201:enzymology*; D002478:Cells, Cultured; D005347:Fibroblasts; D006025:Glycosaminoglycans / Q000096:biosynthesis / Q000378:metabolism*; D006596:Hexosaminidases / Q000302:isolation & purification / Q000378:metabolism* / Q000627:therapeutic use; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy / Q000201:enzymology*; D010920:Placenta / Q000201:enzymology; D012867:Skin; D013431:Sulfates / Q000378:metabolism; D013460:Sulfur Isotopes
D006025:Glycosaminoglycans; D013431:Sulfates; D013460:Sulfur Isotopes; D006596:Hexosaminidases