title: Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
abstract: beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.
authors.affiliation: Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands.
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: P
authors.initials: P
authors.lastname: Hu
authors.forename: R
authors.initials: R
authors.lastname: Thoomes
authors.forename: M
authors.initials: M
authors.lastname: Boer
authors.forename: J G
authors.initials: JG
authors.lastname: Huijmans
authors.forename: W
authors.initials: W
authors.lastname: Blom
authors.forename: O P
authors.initials: OP
authors.lastname: Van Diggelen
authors.forename: E
authors.initials: E
authors.lastname: Seemanova
authors.forename: M
authors.initials: M
authors.lastname: Macek
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000097:blood / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D010375:Pedigree; D010949:Plasma / Q000201:enzymology; D008363:alpha-Mannosidosis / Q000201:enzymology / Q000235:genetics* / Q000652:urine; D044902:beta-Mannosidase
chemical_list: D009844:Oligosaccharides; D008361:Mannosidases; D044902:beta-Mannosidase