Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome

Abstract

We studied a thiamine-requiring enzyme in cultured cells from four patients with the Wernicke-Korsakoff syndrome to determine whether these patients have a genetic predilection to thiamine deficiency. Transketolase in fibroblasts from the patients with the syndrome bound thiamine pyrophosphate less avidly than control lines. The apparent K_m for thiamine pyrophosphate was 195±31 μM for transketolase in extracts of the patients' cells as compared to 16±2 μM in six control lines (means ± S.E.M.: P<0.001). The ranges were 146 to 281 μM for the patients and 12 to 20 μM for the controls. The abnormality in transketolase persisted through serial passages in tissue culture in cells grown in medium containing excess thiamine and no ethanol, indicating that the aberrations were genetic rather than dietary.