Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
Authors:
M. Magner 1*; M. Buganová 1*; B. Asfaw 2; H. Poupětová 2; J. Ledvinová 2; O. Brantová 1; H. M. Stesland 3; J. Zeman 1,2
Authors place of work:
Klinika dětského a dorostového lékařství VFN a UK 1. LF, Praha
1; Ústav dědičných poruch metabolismu VFN a UK 1. LF, Praha
2; Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway
3
Published in the journal:
Čes-slov Pediat 2008; 63 (12): 677-682.
Category:
Original Papers
Summary
Alpha-mannosidosis is a slow progressive lysosomal storage disease resulting from the deficiency of lysosomal alpha-mannosidase. The aims of the study were to describe the clinical course of the disease and the results of biochemical and molecular analyses in all four Czech patients with alpha-mannosidosis.
First symptoms of the disease manifested within the first year of life and included psychomotor retardation, repeated respiratory and skin infections, hearing loss and speech problems, progressive development of skeletal changes with coarse facial features, sternum protrusion and scoliosis. The further neurological impairment with the pyramidal and extrapyramidal symptomatology developed since the second year of life.
The activity of alpha-mannosidase was profoundly decreased in isolated leukocytes and all patients are in the gene for alpha-mannosidase homozygous for the mutation p.R750W. The mild hypogamaglobulinaemia was present in all patients.
Conclusion:
Better understanding of the natural course of alpha mannosidosis in childhood will help to identify affected children earlier in the course of the disease. It is important not only for the genetic counseling and prenatal diagnostics in affected families but also for the successful use of new therapeutic approaches including enzyme replacement therapy.
Key words:
alpha-mannosidosis, psychomotor delay, lysosomal storage disease
Zdroje
1. Spranger J, Gehler J, Cantz M. The radiographic features of mannosidosis. Radiology 2000;119: 401–407.
2. Malm D, Tollersrud OK, Tranebjaerg L, Månsson JE. Alpha-mannosidosis. Tidsskr. Nor. Laegeforen. 1995 Feb 20;115(5):594–597.
3. Thomas GH, Beaudet AL. Disorders of glycoprotein degradation and structure-α: mannosidosis-β, mannosidosis, sialidosis, aspartylglucosaminuria, and carbohydrate-deficient glycoprotein syndrome. In Scriver CR, Beaudet AL, Sly WS, Valle D. (eds). Metabolic Basis of Inherited Disease. 7th ed. New York: McGraw Hill, 1995: 2529–2561.
4. Kaneda Y, Hayes H, Uchida T, Yoshida MC, Okada Y. Regional assignment of five genes on human chromosome 19. Chromosoma 1987;95: 8–12.
5. Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). Genomics 1997;42: 200–207.
6. Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK. Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum. Mol. Genet. 1997 May;6(5):717–726.
7. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999 Jan 20;281(3): 249–254.
8. Hlavatá A, Kovács L. Skúsenosti s enzýmovou substitučnou liečbou u mukopolysacharidózy. Čes.-slov. Pediat. 2006;10: 593–598.
9. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur. J. Pediatr. 2008 Mar; 167(3): 267–277.
10. Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ; MPS VI Study Group. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005 Jun;115(6): e681–689.
11. Klinge L, Straub V, Neudorf U, Voit T. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics 2005 Feb;36(1): 6–11.
12. Sewell AC. Urinary oligosaccharides. In Hommes FA. (ed). Techniques in Diagnostic Human Biochemical Genetics. New York: Willey-Liss, 1991: 219–231.
13. Skoog WA, Beck WS. Studies on fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 1956;11: 436–454.
14. Hartree EF. Determination of protein: A modification of the Lowry method that gives a linear photometric response. Analytical Biochemistry 1972;48: 422–427.
15. Berg T, Frostad Riise MH, Hansen GM, Malm D, Tranebjærg L, Tollersrud OK, Nilssen O. Spectrum of mutations in α-mannosidosis. Am. J. Hum. Genet. 1999;64: 77–88.
16. Wenger DA, Williams C. Screening for lysosomal disorders. In Hommes FA. (ed). Techniques in Diagnostic Human Biochemical Genetics. New York: Willey-Liss, 1991: 587–617.
17. Neufeld EF. Lysosomal storage diseases. Annu. Rev. Biochem. 1991;60: 257–280.
18. Ockerman PA. A generalized storage disorder resembling Hurler’s syndrome. Lancet 1967;2: 239–241.
19. Project HUE-MAN: Towards the development of an effective enzyme replacement therapy for human alpha-mannosidosis. LSHM-CT-2006-018692:12.
20. Hocking JD, Jolly RD, Batt RD. Deficiency of alpha-mannosidase in Angus cattle. An inherited lysosomal storage disease. Biochem. J. 1972 Jun;128(1): 69–78.
21. Burditt LJ, Chotai K, Hirani S, Nugent PG, Winchester BG, Blakemore WF. Biochemical studies on a case of feline mannosidosis. Biochem. J. 1980;189: 467–473.
21. Crawley AC, Jones MZ, Bonning LE, Finnie JW, Hopwood JJ. Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. Pediatr. Res. 1999;46: 501–509.
22. Stinchi S, Lüllmann-Rauch R, Hartmann D, Coenen R, Beccari T, Orlacchio A, von Figura K, Saftig P. Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Hum. Mol. Genet. 1999 Aug;8(8): 1365–1372.
23. Malm D, Halvorsen DS, Tranebjaerg L, Sjursen H. Immunodeficiency in alpha-mannosidosis: a matched casecontrol study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur. J. Pediatr. 2000;159: 699–703.
24. Fukuda M, Tanaka A, Isshiki G. Variation of lysosomal enzyme activity with gestational age in chorionic villi. J. Inherit. Metab. Dis. 1990;13(6): 862–866.
25. Kjellman B, Gamstorp I, Brun A, Oeckerman PA, Palmgren B. Mannosidosis: a clinical and histopathologic study. J. Pediatr. 1969;75: 366–373.
26. Monus Z, Konyar E, Szabo L. Histomorphologic and histochemical investigations in mannosidosis. A light and electron microscopic study. Virchows Arch. B Cell Pathol. 1977 Dec 30;26(2): 159–173.
27. Warner TG, Mock AK, Nyhan WL, O’Brien JS. Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. Clin. Genet. 1984 Mar;25(3): 248–255.
28. Michelakakis H, Dimitriou E, Mylona-Karayanni C, Bartsocas CS. Phenotypic variability of mannosidosis type II: report of two Greek siblings. Genet. Couns. 1992;3(4): 195–199.
29. Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ. Enzyme replacement therapy in [alpha]-mannosidosis guinea-pigs. Molecular Genetics and Metabolism 2006;89(1–2): 48–57.
30. Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotagal S. Bone marrow transplantation for the treatment of alpha-mannosidosis. J. Pediatr. 1998 Aug;133(2): 282–285.
31. Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J. Pediatr. 2004 May;144(5): 569–573.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2008 Číslo 12
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