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Open Access 01-02-2018 | Original Article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Authors: Dorota Piekutowska-Abramczuk, Rafał Rutyna, Elżbieta Czyżyk, Elżbieta Jurkiewicz, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylwia Stachowicz, Joanna Strzemecka, Wiesław Guz, Michał Gawroński, Aneta Kosierb, Joanna Ligas, Mateusz Puchala, Anna Drelich-Zbroja, Małgorzata Bednarska-Makaruk, Wojciech Dąbrowski, Elżbieta Ciara, Janusz B. Książyk, Ewa Pronicka

Published in: Metabolic Brain Disease | Issue 1/2018

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.

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Title: Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Authors: Dorota Piekutowska-Abramczuk
Rafał Rutyna
Elżbieta Czyżyk
Elżbieta Jurkiewicz
Katarzyna Iwanicka-Pronicka
Dariusz Rokicki
Sylwia Stachowicz
Joanna Strzemecka
Wiesław Guz
Michał Gawroński
Aneta Kosierb
Joanna Ligas
Mateusz Puchala
Anna Drelich-Zbroja
Małgorzata Bednarska-Makaruk
Wojciech Dąbrowski
Elżbieta Ciara
Janusz B. Książyk
Ewa Pronicka
Publication date: 01-02-2018
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 1/2018
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0122-1

At a glance: The STEP trials

Springer Medicine

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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