The defect in the Hurler and Scheie syndromes: deficiency of   -L-iduronidase.
Skin fibroblasts cultured from patients affected with the Hurler or Scheie syndromes (mucopoly-saccharidoses I or V, respectively) have a functional deficiency of a protein required for catabolism of sulfated mucopolysaccharide that has been designated the "Hurler corrective factor." We now show Hurler factor purified from normal human urine to be associated with alpha-L-iduronidase activity. Cell lines deficient in Hurler corrective factor have no detectable activity of alpha-L-iduronidase (less than 3% of that found in cells from individuals of other genotypes). Such correspondence indicates that Hurler corrective factor and alpha-L-iduronidase are the same entity. Correction of deficient cells is accompanied by an efficient uptake of alpha-L-iduronidase from the medium.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D002458:Cell Fractionation; D002849:Chromatography, Gas; D003318:Corneal Opacity / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology*; D006025:Glycosaminoglycans / Q000096:biosynthesis*; D006026:Glycoside Hydrolases / Q000032:analysis* / Q000652:urine; D006601:Hexoses; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008722:Methods; D008059:Mucopolysaccharidosis I / Q000201:enzymology*; D012174:Retinitis Pigmentosa / Q000201:enzymology; D013577:Syndrome; D014574:Uronic Acids
D006025:Glycosaminoglycans; D006601:Hexoses; D014574:Uronic Acids; D006026:Glycoside Hydrolases