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  • An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually associated with slow physical and mental development, microcephaly, dysgenesis and atrophic changes in the brain, cerebellar ataxia, seizures, and spasticity. Pyruvate dehydrogenase phosphatase (EC 3.1.3.43) deficiency has been found to occur in Leigh syndrome.
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