Leigh Disease

This is the authors' abstract. We don't add key points for this paper.

Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh disease, we have purified it from urines of patients with, and obligate carriers of, Leigh disease. The effect of the inhibitor is reduced by treating the patient with thiamine derivatives; it is inactivated by trypsin and acid (pH 3.0) and unaffected by treatment with neuraminidase, phosphodiesterase, and alkali (pH 9.5). Based on gel filtration chromatography on a fractionating column (Sephadex), the molecular weight of the inhibitor is about 37,000.