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Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.

Abstract：

:Erythrocyte thiamin metabolism and transport were investigated in 7 patients from Brazil, Israel and Italy suffering from thiamin-responsive megaloblastic anaemia (TRMA) associated with diabetes mellitus and sensorineural deafness. All patients discontinued thiamin therapy for 4-7 days before the investigation. TRMA patients showed invariably reduced total thiamin levels in erythrocytes (percentage reduction compared with healthy controls, -46.8 +/- 3%; mean +/- SEM). The proportions of individual thiamin compounds, expressed as a percentage of total thiamin content, were within the normal range, whereas their absolute amounts were significantly decreased in the following order: thiamin monophosphate > thiamin pyrophosphate > thiamin. Thiamin pyrophosphokinase activity was also reduced as compared with controls (mean reduction +/- SEM, -25.9 +/- 1%). The saturable, specific component of thiamin uptake, which normally prevails at physiological concentrations of thiamin (< 2 mumol/L), was absent in erythrocytes obtained from TRMA patients, while the non-saturable (diffusive) component of uptake was normally present. These results confirm observations made previously in two patients and demonstrate that TRMA is consistently associated with a state of thiamin deficiency, which is presumably secondary to reduced thiamin cellular transport and absorption (caused by lack of a membrane-specific carrier), and to impaired intracellular pyrophosphorylation.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Rindi G,Patrini C,Laforenza U,Mandel H,Berant M,Viana MB,Poggi V,Zarra AN

doi

10.1007/BF00712009

subject

Has Abstract

pub_date

1994-01-01 00:00:00

pages

667-77

issue

6

eissn

0141-8955

issn

1573-2665

journal_volume

17

pub_type

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