Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents.
A three-year-old boy has coarse facial features, upper respiratory congestion, profound mental retardation, hepatosplenomegaly, increased height and head circumference, cataracts, a gibbus deformity, radiographic changes of dysostosis multiplex, and vacuolized peripheral lymphocytes. These findings are the most commonly reported clinical features in the previously described patients with mannosidosis. Our patient has a severe deficiency, and his parents have intermediate levels, of the acidic component of alpha-mannosidase in their cultured fibroblasts.
D002478:Cells, Cultured; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency*; D005145:Face; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000172:deficiency* / Q000378:metabolism; D010641:Phenotype
D006025:Glycosaminoglycans; D004186:Disaccharidases; D008361:Mannosidases