Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.

Abstract

In1951Leighdescribed acondition whichisnow knownassubacute necrotizing encephalomyelopathy.Ebels, Blokzijl, andTroelstra (1965) have summarized findings in28ofthesepatients, all ofwhomdied.Sincethen6 further cases have beendescribed byWorsley etal.(1965), Namiki (1965), Lakke, Ebels, andtenThye(1967), and Clayton, Dobbs, andPatrick (1967). Themetabolic background ofthissyndrome is notyetestablished. Thebiochemical abnormalities recorded havebeen(1)apersistently lowplasma bicarbonate level, notedbyFeigin andWolf(1954) andconfirmed inthe2 casesofWorsley etal. (1965), and(2)highbloodpyruvate andlactate levels observed inthe2 casesofWorsley etal. (1965) andinthecases described byClayton etal. (1967). Recently, Clayton etal.(1967) (seealso Cromne andStern, 1967) havereported treatment ofthis condition withlipoic acid, withsomeclinical benefit, aswasalso seeninthepresent case. Thispaperdescribes adeficiency oftheenzyme pyruvate carboxylase intheliver ofapatient with this condition.