Inborn Error of Gluconeogenesis

In 1951 Leigh described a condition which is now known as subacute necrotizing encephalomyelopathy. Ebels, Blokzijl, and Troelstra (1965) have summarized findings in 28 of these patients, all of whom died. Since then 6 further cases have been described by Worsley et al. (1965), Namiki (1965), Lakke, Ebels, and ten Thye (1967), and Clayton, Dobbs, and Patrick (1967). The metabolic background of this syndrome is not yet established. The biochemical abnormalities recorded have been (1) a persistently low plasma bicarbonate level, noted by Feigin and Wolf (1954) and confirmed in the 2 cases of Worsley et al. (1965), and (2) high blood pyruvate and lactate levels observed in the 2 cases of Worsley et al. (1965) and in the cases described by Clayton et al. (1967). Recently, Clayton et al. (1967) (see also Cromne and Stern, 1967) have reported treatment of this condition with lipoic acid, with some clinical benefit, as was also seen in the present case. This paper describes a deficiency of the enzyme pyruvate carboxylase in the liver of a patient with this condition.