Article
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Metabolic brain disease - 1 Feb 2018
Piekutowska-Abramczuk Dorota, Rutyna Rafał, Czyżyk Elżbieta, Jurkiewicz Elżbieta, Iwanicka-Pronicka Katarzyna, Rokicki Dariusz, Stachowicz Sylwia, Strzemecka Joanna, Guz Wiesław, Gawroński Michał, Kosierb Aneta, Ligas Joanna, Puchala Mateusz, Drelich-Zbroja Anna, Bednarska-Makaruk Małgorzata, Dąbrowski Wojciech, Ciara Elżbieta, Książyk Janusz B, Pronicka Ewa
Abstract excerpt
Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. We report on the acid-base status of three patients with m.9185T>C related LS. At the onset, it showed respiratory alkalosis, reflecting excessive respiration effort (hyperventilation with low pCO2). In patient 1, the deterioration...
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