Variation in the phenotypic expression of beta-glucuronidase deficiency.
Defiency of beta-glucuronidase was demonstrated in serum, leukocytes, and cultured skin fibroblasts of two unrelated patients. One patient died at 2 9/12 years with a phenotype consistent with severe mucopolysaccharidosis; the other is 14 years of age and well, except for hypertension and obstructive lesions of large blood vessels. Analysis of urinary mucopolysaccharides revealed impaired degradation of dermatan sulfate and, to a lesser extent, of heparan sulfate. Cultured skin fibroblasts accumulated excess glycosaminoglycans (the term glycosaminoglycans is synonymous with acid mucopolysaccharides) as indicated by 35-SO-4 uptake.
D000293:Adolescent; D000818:Animals; D002417:Cattle / Q000276:immunology; D002478:Cells, Cultured; D002675:Child, Preschool; D004838:Epiphyses / Q000000981:diagnostic imaging; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D005966:Glucuronidase / Q000097:blood / Q000172:deficiency*; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008970:Molecular Weight; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging; D012867:Skin / Q000473:pathology
D006025:Glycosaminoglycans; D005966:Glucuronidase