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Recessive Epidemiology: 2 patients Genetics Mutations: Missense & Stop LIPT1 protein Catalyzes second step in covalent attachment of lipoic acid to lipoate-dependent proteins Clinical: Leigh Onset age: 2 days to 15 months Tone Early: Hypotonia Later: Spastic tetraparesis Psychomotor development: Delayed Dystonia Course: Episodes of deterioration Laboratory Brain imaging Atrophy: Cerebellum & Cortex White matter abnormalities: Thalamic & Frontal Serum lactate: High Metabolic acidosis Epilepsy & Hypotonia, Neonatal 125 Lipoic acid synthase (LIAS)