Leigh’s encephalopathy

In Leigh s encephalopathy, pyruvate carboxylase is virtually absent from the liver [135, 136]. As a consequence, the concentration of pyruvic acid [137] in the blood rises (up to 5 mg per 100 ml) and this leads to lactic acidaemia [138] (30 mg per 100 ml or more), hypereJaninaemia (up to 12 mg per 100 ml) lactic aciduria and increased excretion of alanine [139], the three substances being interconvertible. 

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