Leigh syndrome (LS) is a progressive untreatable degenerating
mitochondrial disorder caused by either mitochondrial or nuclear
DNA mutations. A patient was a second child of unconsanguineous parents. On the third day of birth, he was transferred to neonatal intensive care units because of severe
lactic acidosis. Since he was showing continuous
lactic acidosis, the oral supplementation of dichloroacetate (DCA) was introduced on 31st day of birth at initial dose of 50 mg/kg, followed by maintenance dose of 25 mg/kg/every 12 h. The patient was diagnosed with LS due to a point mutation of an A-C at
nucleotide 599 in exon 6 in the
pyruvate dehydrogenase E1α gene, resulting in the substitution of
aspartate for
threonine at position 200 (N200T). Although the concentrations of
lactate and
pyruvate in blood were slightly decreased, his clinical conditions were deteriorating progressively. In order to overcome the mitochondrial or cytosolic energy crisis indicated by
lactic acidosis as well as clinical symptoms, we terminated the DCA and administered 0.5 g/kg/day TID of
sodium pyruvate orally. We analyzed the
therapeutic effects of DCA or
sodium pyruvate in the patient, and found that
pyruvate therapy significantly decreased
lactate,
pyruvate and
alanine levels, showed no adverse effects such as severe neuropathy seen in DCA, and had better clinical response on development and
epilepsy. Though the efficacy of
pyruvate on LS will be evaluated by randomized double-blind placebo-controlled study design in future,
pyruvate therapy is a possible candidate for therapeutic choice for currently incurable
mitochondrial disorders such as LS.