| Main clinical features
|
overwhelming lactic acidosis at birth, Leigh syndrome, leading to death in neonatal period or inducing a progressive dysfunction with moderate lactic acidosis or carbohydrate-induced episodic ataxia and mild developmental delay in males
neurodevelopmental abnormalities included microcephaly, migration abnormalities (pachygyria, polymicrogyria, periventricular nodular heterotopias), and cerebellar and brainstem hypoplasia with hypoplastic dentate nuclei and pyramidal tracts (PMID: 26865159)) |