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Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease

Bone Marrow Transplantation volume 36, pages 925–926 (2005)Cite this article

Tay-Sachs disease (TSD) is a lysosomal storage disorder caused by β-hexosaminidase A (Hex-A) deficiency and characterised by the accumulation of GM2 ganglioside.1 Hex-A deficiency leads to severe neurodegeneration, due to excessive storage of gangliosides in the central nervous system (CNS). Onset of symptoms depends on residual Hex-A activity, with symptoms starting in the first year of life in cases of complete enzyme deficiency.2 To date, no effective treatment for TSD is available.3

Allogeneic BMT has been used to treat patients with various lysosomal storage disorders. Successful transplantation provides metabolically competent haematopoietic cells in affected tissues, which may correct the enzyme deficiency. BMT is not effective when severe neurological symptoms are already present at the time of transplantation.4 The effect of BMT in patients with TSD is unknown.

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Authors and Affiliations

  1. Department of Pediatric Hemato-oncology, Radboud University Medical Center, Nijmegen, The Netherlands

    J F M Jacobs, J J Groot-Loonen & P M Hoogerbrugge

  2. Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

    M A A P Willemsen

  3. Laboratory of Pediatrics and Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

    R A Wevers

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  1. J F M Jacobs
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  2. M A A P Willemsen
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  3. J J Groot-Loonen
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  4. R A Wevers
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  5. P M Hoogerbrugge
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Jacobs, J., Willemsen, M., Groot-Loonen, J. et al. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant 36, 925–926 (2005). https://doi.org/10.1038/sj.bmt.1705155

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