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Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% thiamine pyrophosphate effect) were measured in 111 subjects suspected to suffer from Leigh's disease (subacute necrotising encephalomyelopathy). From clinical evidence these subjects were divided into five groups: (1) necropsy-proved cases of subacute necrotising encephalomyelopathy, (2) cases positive for urinary thiamine pyrophosphate: adenosine triphosphate phosphotransferase inhibitor, (3) clinically likely cases of subacute necrotising encephalomyelopathy (patients still alive, or on whom no necropsy was performed), (4) cases diagnosed as diseases other than subacute necrotising encephalomyelopathy (control group), (5) cases for which no diagnosis had been made. Comparison of erythrocyte transketolase activities with and without added thiamine pyrophosphate and of the % thiamine pyrophosphate effect for each group compared with the control group showed no statistically significant differences from normal values for any of these parameters. Similarly, there were no differences between the two sexes in transketolase activity, and no correlation between transketolase activity and age. These results indicate that erythrocyte transketolase activity is not altered in subacute necrotising encephalomyelopathy and is unlikely to be of value for the diagnosis of Leigh's disease. [ABSTRACT FROM AUTHOR]

A pair of monozygotic twins, one suffering from the Wernicke-Korsakoff syndrome, verified at autopsy, and the other healthy, was studied biochemically. The erythrocyte transketolase of each twin showed abnormalities, though these differed in the two individuals. In the healthy twin, the basal transketolase was low, but responded normally to thiamine pyrophosphate (TPP) added in vitro. In the twin with the Wernicke-Korsakoff syndrome the basal level of the enzyme and its response in vitro were normal, but a period of treatment with thiamine tetrahydrofurfuryldisulphide, led to loss of the in vitro response. It is suggested that, initially, an inborn error of metabolism may have been common to both twins. [ABSTRACT FROM AUTHOR]

Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% TPP effect) were measured in subjects suffering from Wernicke-Korsakoff syndrome both before and during treatment with thiamine and/or thiamine tetrahydrofurfuryldisulphide (TTFD). Transketolase activity was significantly lower in untreated patients than in healthy volunteers. Treatment with either thiamine or with TTFD restored enzyme levels to control values but TTFD produced a greater increase than thiamine in enzyme activity. In a group of seven patients there was no correlation between duration of TTFD therapy and either increase in erythrocyte transketolase activity or % decrease in the TPP effect. However, when three patients were followed at intervals during treatment with TTFD, their erythrocyte transketolase increased progressively. Neither thiamine nor TTFD produced clinical improvement in the mental symptoms of Wernicke-Korsakoff psychosis unless administered early in the course of the disease. [ABSTRACT FROM AUTHOR]