title: Mannosidosis. Clinical and biochemical study.
abstract: The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. Superficially they appeared to suffer from Hurler's syndrome, but the facies, eye signs, radiological and cytological features were atypical. Excess urinary oligosaccharides were found by thin-layer chromatography. The diagnosis was confirmed by determining the acidic alpha-mannosidase activity of leucocytes and cultured skin fibroblasts. Prenatal diagnosis is possible from cultured amniotic cells.
mesh_terms: D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002675:Child, Preschool; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008358:Mannose / Q000378:metabolism*; D008361:Mannosidases / Q000097:blood; D009844:Oligosaccharides / Q000652:urine
chemical_list: D009844:Oligosaccharides; D008361:Mannosidases; D008358:Mannose