Top

Published in:

01-12-2010 | Case Report

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

Authors: A. A. Broomfield, A. Chakrapani, J. E. Wraith

Published in: Journal of Inherited Metabolic Disease | Special Issue 3/2010

Abstract

This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing somatic problems and recurrent infections. The younger brother had undergone transplantation pre-symptomatically at 6 months of age. Their clinical, radiological and developmental outcomes are documented and compared with the previous published cases, with the case for early transplantation being weighted against other potential therapies.

Abraham D, Muir H, Olsen I, Winchester B (1985) Direct enzyme transfer from lymphocytes corrects a lysosomal storage disease. Biochem Biophys Res Commun 129:417–425PubMedCrossRef

Albert MH, Schuster F, Peters C et al (2003) T cell depleted peripheral blood stem cell transplantation for α-mannosidosis. Bone Marrow Transplant 32:443–446PubMedCrossRef

Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabis A, Pina MA, Calderon C (1999) Neurological impairment in α-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst 15:369–371PubMedCrossRef

Bahr BA, Bendiske J (2002) The neuropathogenic contributions of lysosomal dysfunction. J Neurochem 83:481–489PubMedCrossRef

Berg T, Riise HM, Hansen GM, Malm D, Tranebbjarg L, Tollersrud OK (1999) Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 64:77–88PubMedCrossRef

Blanz J, Stroobants S, Lullmann-Rauch R et al (2008) Reversal of peripheral and central neuronal storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice. Hum Mol Genet 17:3437–3445PubMedCrossRef

Boelens JJ, Wynn RF, O’Meara A et al (2007) Outcomes of hematopoietic stem cell transplantation for Hurler’s syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant 40:225–233PubMedCrossRef

Chester MA, Lundblad A, Ockerman PA, Autio S (1982) Mannosidosis. In: Durand P, O’Brien JS (eds) Genetic errors in glycoprotein metabolism. Springer, Berlin, p 89CrossRef

Clark GF, Patankar MS (1998) Response to a letter to Glyco-Forum entitled “Hypothesis: immunodeficiencies ina-mannosidosis, mycosis, AIDS and cancer—acommon mechanism of inhibition of the functionof the lectin interleukin 2 by oligomannosides”. Glycobiology 8:iii–iv

Crawley AC, Walkley SU (2007) Developmental analysis of CNS pathology in the lysosomal storage disease α-mannosidosis. J Neuropathol Exp Neurol 66:687–697PubMedCrossRef

Dietmann JL, Flippi de la Palavesa MM, Tranchant C, Kastler B (1990) MR findings in mannosidosis. Neuroradiology 32:485–487, PMID 2287376CrossRef

Dobrenis K (1992) Mechanisms underlying successful treatment of neuronal storage disease. Abstract 034 of the 7th International Congress of Inborn Errors of Metabolism, Vienna, Austria

Futerman AH, van Meer G (2004) The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 5:554–565PubMedCrossRef

Grewal SS, Shapiro EG, Krivit W et al (2004) Effective treatment of α-mannosidosis by allogeneic haematopoietic stem cell transplantation. J Pediatr 144:569–573PubMedCrossRef

Hansen MD, Filipovich AH, Davies SM et al (2008) Allogeneic hematopoietic cell transplantation (HCT) in Hurler’s syndrome using a reduced intensity preparative regimen. Bone Marrow Transplant 41:349–353PubMedCrossRef

Hickey WF, Kimura H (1998) Perivascular microglial cells of the CNS are bone derived and present in vivo. Science 239:290–292CrossRef

Hoffmann B, Keshav S (2007) Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. Acta Paediatr Suppl 96:84–86, PMID 17391450PubMedCrossRef

Jeyakumar M, Dwek RA, Butters TD, Platt FM (2005) Storage solutions treating lysosomal disorders of the brain. Nat Rev Neurosci 6:713–725PubMed

Kakkis ED, Muenzer J, Tiller GE, Waber L et al (2001) Enzyme replacement therapy in mucopolysaccharidosis. N Eng J Med 344:1831–1888CrossRef

Kennedy DW, Abkowitz JL (1997) Kinetics of central nervous system miroglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood 90:986–993PubMed

Kharbanda S, Panoskaltis-Moratari A, Haddad IY et al (2006) Inflammatory cytokines and the development of Pulmonary complications after allogeneic Hematopoietic Cell transplantation in patients with inherited metabolic storage disorders. Biol Blood Marrow Transplant 12:430–437PubMedCrossRef

Knoll RB, Kulkarni R, Netzloff ML (1986) Follow up of language and cognitive development in patients with mannosidosis. Arch Neurol 43:157–159CrossRef

Malm D, Pantel J, Linaker OM (2005) Psychiatric symptoms in alpha-mannosidosis. J Intellect Disabil Res 49:865–871PubMedCrossRef

Miano M, Labopin M, Hartmann O et al (2007) Haematopoietic stem cell transplantation trends in children over the last three decades: a survey by the paediatric diseases working party of the European Group for Blood and Marrow Transplantation. Bone Marrow Transplant 39:89–99PubMedCrossRef

Michalski JC, Klein A (1999) Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α-N-acetylgalactosaminidase deficiency. Biochem Biophys Acta 1455:69–84PubMedCrossRef

Mitchell ML, Erickson RP, Schmid D, Hieber V, Poznanski AK, Hicks SP (1981) Mannosidosis: two brothers with different degrees of disease severity. Clin Genet 20:191–202PubMedCrossRef

O’Brien T, Eastlund T, Peters C, Neglia JP, Defor T, Ramsay NKC, Baker KS (2004) Autoimmune haemolytic anaemia complicating haematopoietic cell transplantation in paediatric patients: high incidence and significant mortality in unrelated transplants for non-malignant diseases. Br J Haematol 127:67–75PubMedCrossRef

Peters CJ (2003) Effective treatment of the central nervous system in lysosomal storage diseases: save that brain. J Lab Clin Med 142:361–363PubMedCrossRef

Roces DP, Lüllmann-Rauch R, Peng J et al (2004) Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study. Hum Mol Genet 13:1979–1988PubMedCrossRef

Spranger J, Gehler J, Cantz M (1976) The radiographic features of α-mannosidosis. Radiology 119:401PubMed

Staba SL, Escolar ML, Poe M et al (2004) Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome. N Engl J Med 350:1932–1934CrossRef

Sun H, Wolfe JH (2001) Recent progress in lysosomal α-mannosidosis and its deficiency. Exp Mol Med 33:1–7PubMedCrossRef

Thomas G (2001) Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis and sialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited metabolic disease, 8th edn. McGraw-Hill Medical, pp 3507–3516

Vite CH, McGowan JC, Niogi SN, Passini MA, Drobatz KJ, Haskins ME, Wolfe JH (2005) Effective gene therapy for an inherited metabolic disease in a large animal model. Ann Neurol 57:355–364PubMedCrossRef

Walkley SU (2004) Pathogenic cascades and brain dysfunction. In: Platt FM, Walkley SU (eds) Lysosomal disorders of the brain. Oxford University Press, New York, p 290–324CrossRef

Walkley SU (2007) Pathological mechanisms in lysosomal disease: a reappraisal of the role of the lysosome. Acta Paediatr 96:26–32CrossRef

Walkley SU, Dobrenis K (1995) Bone marrow transplantation for the treatment of lysosomal storage disorders. Lancet 345:1398–1402CrossRef

Title: The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
Authors: A. A. Broomfield
A. Chakrapani
J. E. Wraith
Publication date: 01-12-2010
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue Special Issue 3/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-9035-4

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Special Issue 3/2010

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page