학술논문
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Document Type
Original Paper
Author
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
Source
Metabolic Brain Disease. :1-9
Subject
Language
English
ISSN
0885-7490
1573-7365
1573-7365
Abstract
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 occurred in temporal relation to passive oxygen therapy. To the contrary, on the recovery, she demonstrated a relatively low respiratory drive, suggesting that a “hypoventilation” might be beneficial for m.9185T>C carriers. As long as circumstances of the development of LS have not been fully explained, we recommend to counteract hyperventilation and carefully dose oxygen in patients with m.9185T>C related LS.