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Clinical manifestations of mannosidosis—A longitudinal study

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      Abstract

      Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at birth and that their typical phenotype develops by two years of age. This is characterized by a distinctive coarse facies and dysostosis multiplex. Although recurrent Infections, hearing loss and mental retardation occur, the course in this storage disorder generally is stable and is compatible with adult life.
      The diagnosis is confirmed by the presence of a deficiency in α-D-mannosidase activity in leukocytes or fibroblasts, by the presence of vacuolated lymphocytes in peripheral blood and foam cells in bone marrow, and an increased excretion of mannose-rich oligosaccharides in urine.
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      References

        • Öckerman PA
        A generalized storage disorder resembling Hurler's syndrome.
        Lancet. 1967; 2: 239
        • Carroll M
        • Dance N
        • Masson PK
        • et al.
        Human mannosidosis. The enzymatic defect.
        Biochem Biophys Res Commun. 1972; 49: 579
        • Öckerman PA
        Mannosidosis. Isolation of oligosaccharide storage material from brain.
        J Pediatr. 1969; 75: 360
        • Autio S
        • Nordén NE
        • Öckerman PA
        • et al.
        Mannosidosis: clinical, fine-structural and biochemical findings in three cases.
        Acta Paediatr Scand. 1973; 62: 555
        • Norden NE
        • Öckerman PA
        • Szabo L
        Urinary mannose in mannosidosis.
        J Pediatr. 1973; 82: 686
        • Tsay GC
        • Dawson G
        • Matalon R
        Excretion of mannose-rich complex carbohydrates by a patient with α-mannosidase deficiency (mannosidosis).
        J Pediatr. 1974; 84: 865
        • Perelman R
        • Nathanson M
        • Lepastier G
        • et al.
        Mannosidosis associée a l'absence d'alpha-1-antitrypsine. Présentation d'une obervation. Revue de la litterature.
        Ann Pédiatr. 1975; 22: 385
        • Farriaux JP
        • Legouis I
        • Humbel R
        • et al.
        La mannosidase. A propos de 5 observations.
        Nouv Presse Med. 1975; 4: 1867
        • Sanfilippo SJ
        • Yunis JJ
        • Worthen HE
        An unusual storage disease resembling the Hunter-Hurler syndrome.
        Am J Dis Child. 1962; 104: 553
        • Spranger JW
        • Wiedemann HR
        • Tolksdorf M
        • et al.
        Lipomucopolysaccharidose. Eine neue Speicherkrankheit.
        Z Kinderheilkd. 1968; 103 (Patient 2): 285
        • Loeb H
        • Teppel M
        • Cremer H
        Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis.
        Acta Paediatr. 1969; 58: 220
        • Spranger JW
        • Wiedemann HR
        The genetic mucolipidoses. Diagnosis and differential diagnosis.
        Humangenetik. 1970; 9: 113
        • Öckerman PA
        • Autio S
        • Nordén NE
        Diagnosis of mannosidosis.
        Lancet. 1973; 1: 207
        • Nordén NE
        • Erickson O
        • Hultberg B
        • et al.
        Gel chromatographic distribution of urinary carbohydrate compounds.
        Clin Chim Acta. 1973; 44: 95
        • Nordén NE
        • Lundblad A
        • Svensson S
        • et al.
        A mannose-containing trisaccharide isolated from urines of three patients with mannosidosis.
        J Biol Chem. 1973; 248: 6210
        • Humbel R
        • Collart M
        Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.
        Clin Chim Acta. 1975; 60: 143
        • Masson PK
        • Lundblad A
        • Autio S
        Mannosidosis: Detection of the disease and of heterozygotes using serum and leukocytes.
        Biochem Biophys Res Commun. 1974; 56: 296
        • Taylor HA
        • Thomas GH
        • Aylsworth A
        • et al.
        Mannosidosis. Deficiency of a specific α-mannosidase component in cultured fibroblasts.
        Clin Chim Acta. 1975; 59: 93
        • Nordén NE
        • Lundblad A
        • Svensson S
        • et al.
        Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis.
        Biochemistry. 1974; 13: 871
        • Kjellman B
        • Gamstorp I
        • Brun A
        Mannosidosis. A clinical and histopathologic study.
        J Pediatr. 1969; 75: 366
        • Spranger JW
        • Langer LO
        • Wiedemann HR
        Bone dysplasia.
        in: 5th ed. An Atlas of Constitutional Disorders of Skeletal Development. W. B. Saunders Co, Philadelphia1974: 175
        • Freitag F
        • Blumcke S
        • Spranger J
        Hepatic ultrastructure in mucolipidosis I (Lipomucopolysaccharidosis).
        Virchows Arch (Zellpathol). 1971; 7: 189
        • Poenaru L
        • Dreyfus JC
        Electrophoretic heterogeneity of human α-mannosidase.
        Biochim Biophys Acta. 1973; 303: 171
        • Phillips NC
        • Robinson D
        • Winchester BG
        Human liver α-D-mannosidase activity.
        Clin Chim Acta. 1974; 55: 11
        • Butterworth J
        • Sutherland GR
        • Bradhead DM
        • et al.
        Lysosomal enzyme levels in human amniotic fluid cells in tissue culture. III. α-glucuronidase, N-acetyl-β-D-glucosaminidase, α-mannosidase and acid phosphatase.
        Clin Genet. 1974; 5: 356