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Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?

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Organic Acidurias

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Abstract

Thiamin-responsive megaloblastic anaemia (TRMA), associated with diabetes mellitus and sensorineural deafness (McKusick 24927) is a very rare disease, so far described in only five patients from four families. (Rogers et al., 1969; Viana and Carvalho, 1978; La Grutta et al., 1980; Haworth et al., 1982). We report the results of some studies carried out in an additional case, suggesting a possible disorder of thiamin transport in TRMA.

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References

  • Haworth, C., Evans, D. I. K., Mitra, J. and Wickramasinghe, S. N. Thiamine responsive anaemia: a study of two further cases. Br. J. Haematol. 50 (1982) 549–561.

    Article  PubMed  CAS  Google Scholar 

  • La Grutta, A., Lo Curto, M. and Iachininoto, R. Anemia megaloblastica tiamino sensibile, associata a diabete mellito e sordità. Riv. Ital. Pediatr. 6 (1980) 65–70.

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  • Patrini, C. and Rindi, G. An improved method for the electrophoretic separation and fluorometric determination of thiamine and its phosphates in animal tissues. Int. J. Vitam. Nutri. Res. 50 (1980) 10–18.

    CAS  Google Scholar 

  • Rogers, L. E., Porter, F. S. and Sidbury, J. B. Thiamine-responsive megaloblastie anemia. J. Pediatr. 74 (1969) 494–504.

    Article  PubMed  Google Scholar 

  • Sanioto, S. M. L., Reinauer, H. and Hollmann, S. Thiamine pyrophosphokinase activity in liver, heart and brain crude extracts of control and thiamine deficient rats. Int. J. Vitam. Nutri. Res. 47 (1977) 315–324.

    CAS  Google Scholar 

  • Viana, M. B. and Carvalho, R. I. Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? J. Pediatr. 93 (1978) 235–238.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, 2nd Medical School, University of Naples, Italy

    V. Poggi, G. Longo, B. DeVizia & G. Andria

  2. Institute of Human Physiology, University of Pavia, Italy

    G. Rindi & C. Patrini

  3. Department of Audiology, 2nd Medical School, University of Naples, Italy

    E. Cassandro

Authors
  1. V. Poggi
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  2. G. Longo
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  3. B. DeVizia
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  4. G. Andria
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  5. G. Rindi
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  6. C. Patrini
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  7. E. Cassandro
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Editor information

G. M. Addison R. A. Chalmers P. Divry R. A. Harkness R. J. Pollitt

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© 1984 SSIEM and MTP Press Limited, Queen Square, Lancaster

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Poggi, V. et al. (1984). Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?. In: Addison, G.M., Chalmers, R.A., Divry, P., Harkness, R.A., Pollitt, R.J. (eds) Organic Acidurias. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-5612-4_51

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  • DOI: https://doi.org/10.1007/978-94-009-5612-4_51

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-8975-3

  • Online ISBN: 978-94-009-5612-4

  • eBook Packages: Springer Book Archive

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