Journal of Inherited Metabolic Disease

, Volume 15, Issue 2, pp 231–242 | Cite as

Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia

  • G. Rindi
  • D. Casirola
  • V. Poggi
  • B. De Vizia
  • C. Patrini
  • U. Laforenza
Article

Summary

A 9-year study of thiamine metabolism and cellular transport was performed in two patients with thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness, in their relatives, and in age-matched controls from the same area. The ratios between the content of thiamine and that of its phosphoesters in erythrocytes were within the normal range, whereas the absolute values of thiamine and thiamine compounds were reduced by about 40% as compared to controls. Thiamine pyrophosphokinase activity was about 30% lower than in controls. Thiamine treatment restored the levels of thiamine and thiamine compounds to normal values, whereas kinase was unaffected. Both the saturable (specific, predominant at low, < 2 µmol/L, physiological concentrations of thiamine) and the non-saturable component of thiamine transport were investigated. Erythrocytes and ghosts from patients exhibited no saturable component, this abnormality being specific for the patients and not shared by their parents. It is concluded that the cells from thiamine-responsive megaloblastic anaemia patients contain low levels of thiamine compounds, probably due to their inability to take up and retain physiological concentrations of thiamine, as a result of the lack of the saturable, specific component of transport and reduced thiamine pyrophosphokinase.

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References

  1. Baker, H. and Frank, O. Absorption, utilization and clinical effectiveness of allithiamines compared to water-soluble thiamines.J. Nutr. Sci. Vitaminol. 22 (suppl.) (1976) 63–68Google Scholar
  2. Bettendorff, L., Grandfils, C., De Rycker, C. and Schoffeniels, E. Determination of thiamine and its phosphate esters in human blood serum at femtomole levels.J. Chromatogr. Biomed. Appl. 382 (1986) 297–302Google Scholar
  3. Bötticher, B. and Bötticher, D. A new HPLC method for the simultaneous determination of B1-, B2- and B6-vitamers in serum and whole blood.Int. J. Vit. Nutr. Res. 57 (1987) 273–278Google Scholar
  4. Casirola, D., Ferrari, G., Gastaldi, G., Patrini, C. and Rindi, G. Transport of thiamine by brush-border membrane vesicles from rat small intestine.J. Physiol. (London) 398 (1988) 329–339Google Scholar
  5. Casirola, D., Patrini, C., Ferrari, G. and Rindi, G. Thiamin transport by human erythrocytes and ghosts.J. Membrane Biol. 118 (1990) 11–18Google Scholar
  6. Cusaro, G., Rindi, G. and Sciorelli, G. Subcellular distribution of thiamine-pyrophosphokinase and thiamine-pyrophosphatase activities in rat isolated enterocytes.Int. J. Vit. Nutr. Res. 47 (1977) 99–106Google Scholar
  7. De Caro, L., Rindi, G. and de Giuseppe, L. Contents in the rat tissue of thiamine and its phosphates during dietary thiamine deficiency.Int. Rev. Vit. Res. 31 (1961) 333–340Google Scholar
  8. De Caro, L. G. Jr. Vitesse de conduction et contenu en thiamine (cocarboxylase) du nerf.Electroencephalogr. Clin. Neurophysiol. 14 (suppl. 22) (1962) 26–29Google Scholar
  9. Deus, B. and Blum, H. Subcellular distribution of thiamine pyrophosphokinase activity in rat liver and erythrocytes.Biochim. Biophys. Acta 219 (1970) 489–492Google Scholar
  10. Dunnett, C. W. New tables for multiple comparisons with a control.Biometrics 20 (1964) 482–491Google Scholar
  11. Faller, A. Weitere Untersuchungen ueber den Einfluss der B1 Avitaminose auf den Inselapparat der Ratte.Schweiz. Med. Wochenschr. 89 (1959) 380Google Scholar
  12. Glantz, S. A.Statistica per Discipline Biomediche, Programma Applicativo, McGraw-Hill Libri Italia, Milano, 1988Google Scholar
  13. Hakim, A. M., Carpenter, S. and Pappius, H.M. Metabolic and histological reversibility of thiamine deficiency.J. Cerebr. Blood Flow Metab. 3 (1983) 468–477Google Scholar
  14. Hell, D., Six, P. and Salked, R. Vitamin B1-Mangel bei chronischen Athylikern und sein klinisches Korrelat.Schweitz. Med. Wochenschr. 106 (1976) 1466–1470Google Scholar
  15. Hoyumpa, A. M. Jr., Middleton, H. M. III, Wilson, F. A. and Schenker, S. Thiamine transport across the rat intestine. I. Normal characteristics.Gastroenterology 68 (1975) 1218–1227Google Scholar
  16. Ida, T. Bone marrow in beriberi patients.Nippon ketsuekigakukai Zasshi 2 (1983) 439 (Cited by Inouye, K. and Katsura, E. Clinical signs and metabolism of beriberi patients. In Shimazono, N. and Katsura, E. (eds.)Review of Japanese Literature on Beriberi and Thiamine, Vitamin B Res. Committee of Japan, 1965, pp. 64–80Google Scholar
  17. Komai, T., Kawai, K. and Shindo, H. Active transport of thiamine from rat small intestine.J. Nutr. Sci. Vitaminol. 20 (1974) 163–177Google Scholar
  18. Laforenza, U., Patrini, C., Gastaldi, G. and Rindi, G. Effects of acute and chronic ethanol administration on thiamine metabolizing enzymes in some brain areas and in other organs of the rat.Alcohol and Alcoholism 25 (1990) 591–603Google Scholar
  19. Li, C. C.Introduction to Experimental Statistics, McGraw-Hill, New York, 1964, pp. 418–423Google Scholar
  20. Lonsdale, D. Hypothesis and case reports: possible thiamin deficiency.J. Am. Coll. Nutr. 9 (1990) 13–17Google Scholar
  21. Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with Folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275Google Scholar
  22. McCandless, D. W. and Schenker, S. Encephalopathy of thiamine deficiency: studies of intracerebral mechanisms.J. Clin. Invest. 47 (1968) 2268–2280Google Scholar
  23. 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. Vit. Nutr. Res. 50 (1980) 10–18Google Scholar
  24. Poggi, V., Longo, B., De Vizia, B., Andria, G., Rindi, G., Patrini, C. and Cassandro, E. Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?J. Inher. Metab. Dis. 7 (suppl. 2) (1984) 153–154Google Scholar
  25. Poggi, V., Rindi, G., Patrini, C., De Vizia, B., Longo, G. and Andria, G. Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.Eur. J. Pediatr. 148 (1989) 307–311Google Scholar
  26. Rathanaswami, P. and Sundaresan, R. Effects of insulin secretagogues on the secretion of insulin during thiamine deficiency.Biochem. Int. 17 (1988) 523–528Google Scholar
  27. Rinehart, J. F., Greenberg, L. D. and Ginzton, L. L. Thiamine deficiency in the Rhesus monkey.Blood 3 (1948) 1453–1459Google Scholar
  28. Rinehart, J. F., Friedman, M. and Greenberg, L. D. Effect of experimental thiamin deficiency of the nervous system of the Rhesus monkey.Arch. Pathol. 48 (1949) 129–139Google Scholar
  29. Sato, J. Impairment of hearing acuity related to beriberi.Nippon Jibi-inkoka-kai Kaiho 32 (1926) 302 (Cited by Inouye, K. and Katsura, E. Clinical signs and metabolism of beriberi patients. In Shimazono, N. and Katsura, E. (eds.)Review of Japanese Literature on Beriberi and Thiamine, Vitamin B Res. Committee of Japan, 1965, pp. 64–80Google Scholar
  30. Schwoch, G. and Passow, H. Preparation and properties of human erythrocyte ghosts.Mol. Cell. Biochem. 2 (1973) 197–218Google Scholar
  31. Shigematsu, Y., Nakai, A., Kuriyama, M., Kikawa, Y., Konishi, J., Sudo, M. and Itokawa, Y. Delayed auditory brainstem response in thiamin-deficient rats.J. Nutr. Sci. Vitaminol. 36 (1990) 209–215Google Scholar
  32. Sklan, D. and Trostler, N. Site and extent of thiamin absorption in the rat.J. Nutr. 107 (1977) 353–356Google Scholar
  33. Speizer, L., Haugland, R. and Kutchai, H. Asymmetric transport of a fluorescent glucose analogue by human erythrocytes.Biochim. Biophys. Acta 815 (1985) 75–84Google Scholar
  34. Tenconi, F., Bertoncelli, M., Gatti, F. and Rosso, C. A novel vitamin B1 derivative: benzoyloxymethyl-thiamine (BT851).Boll. Chim. Farm. 122 (1983) 27–44Google Scholar
  35. Thornber, E. J., Dunlop, R. H., Gawthorne, J. M. and Huxtable, C. R. Induced thiamin deficiency in lambs.Aust. Vet. J. 57 (1981) 21–26Google Scholar
  36. Weber, W. and Kewitz, H. Determination of thiamine in human plasma and its pharmacokinetics.Eur. J. Clin. Pharmacol. 28 (1985) 213–219Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • G. Rindi
    • 1
  • D. Casirola
    • 1
  • V. Poggi
    • 2
  • B. De Vizia
    • 2
  • C. Patrini
    • 1
  • U. Laforenza
    • 1
  1. 1.Institute of Human PhysiologyUniversity of PaviaPaviaItaly
  2. 2.Department of Pediatrics, 2nd Medical SchoolUniversity of NaplesNaplesItaly

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