| 概要 |
Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities including cerebral atrophy, cysts, and white matter abnormalities. Mutations in the lipoyl transferase 2 gene (LIPT2) have been identified in patients with NELABA. LIPT2 is essential in the maturation of lipoic acid which acts as a cofactor for mitochondrial enzymes.
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| 著者 |
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P |
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