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Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia

  • Hematology/Oncology
  • Published:
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Abstract

We have investigated thiamine metabolism and transport in the erythrocytes of two patients from unrelated families with thamine responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness. Both patients had low concentrations of thiamine compounds in plasma and red blood cells. When erythrocytes were incubated with thiazole-[2-14C]-thiamine or [35S]-thiamine in vitro, the concentration of label within the cells was markedly reduced compared with controls. In addition, thiamine pyrophosphokinase activity was deficient in haemolysates prepared from the patients. Some relatives of the patients showed abnormal parameters of thiamine status and transport. In both patients treatment with a lipophilic compound corrected the haematological abnormalities and diabetes and in one patient has so far prevented the progression of deafness. We propose that the disorder is caused by an inherited defect of thiamine transport, possibly related to deficient pyrophosphokinase activity, leading to intracellular depletion of active thiamine metabolite derivatives.

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Abbreviations

TRMA:

thiamine-responsive megaloblastic anaemia

TMP:

thiamine monophosphate

TPP:

thiamine pyrophosphate

TPKase:

thiamine pyrophosphokinase

TCA:

trichloroacetic acid

BOM:

S-benzoyl-oxy-methylthiamine

RBC:

red blood cells

MCV:

mean corpuscular volume

WBC:

white blood cells

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Authors and Affiliations

  1. Department of Paediatrics, 2nd Medical School, University of Naples, I-80131, Naples, Italy

    V. Poggi, B. De Vizia & G. Longo

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

    G. Rindi & C. Patrini

  3. Department of Paediatrics, University of Reggio Calabria, Catanzaro, Italy

    G. Andria

Authors
  1. V. Poggi
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  2. G. Rindi
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  3. C. Patrini
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  4. B. De Vizia
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  5. G. Longo
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  6. G. Andria
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Poggi, V., Rindi, G., Patrini, C. et al. Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia. Eur J Pediatr 148, 307–311 (1989). https://doi.org/10.1007/BF00444120

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  • DOI: https://doi.org/10.1007/BF00444120

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