caa a22 4500 469045108 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799637 doi (NATIONALLICENCE)springer-10.1007/BF01799637 Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia [Elektronische Daten] [G. Rindi, D. Casirola, V. Poggi, B. De Vizia, C. Patrini, U. Laforenza] 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. SSIEM and Kluwer Academic Publishers, 1992 Rindi G. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut Casirola D. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut Poggi V. Department of Pediatrics, 2nd Medical School, University of Naples, I-80131, Naples, Italy aut De Vizia B. Department of Pediatrics, 2nd Medical School, University of Naples, I-80131, Naples, Italy aut Patrini C. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut Laforenza U. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 231-242 0141-8955 15:2<231 1992 15 10545 https://doi.org/10.1007/BF01799637 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799637 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rindi G. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut NATIONALLICENCE 700 1- Casirola D. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut NATIONALLICENCE 700 1- Poggi V. Department of Pediatrics, 2nd Medical School, University of Naples, I-80131, Naples, Italy aut NATIONALLICENCE 700 1- De Vizia B. Department of Pediatrics, 2nd Medical School, University of Naples, I-80131, Naples, Italy aut NATIONALLICENCE 700 1- Patrini C. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut NATIONALLICENCE 700 1- Laforenza U. Institute of Human Physiology, University of Pavia, Via Forlanini 6, I-27100, Pavia, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 231-242 0141-8955 15:2<231 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer