Ontology highlight
ABSTRACT:
SUBMITTER: Piekutowska-Abramczuk D
PROVIDER: S-EPMC5769826 | biostudies-other | 2018 Feb
REPOSITORIES: biostudies-other
Piekutowska-Abramczuk Dorota D Rutyna Rafał R Czyżyk Elżbieta E Jurkiewicz Elżbieta E Iwanicka-Pronicka Katarzyna K Rokicki Dariusz D Stachowicz Sylwia S Strzemecka Joanna J Guz Wiesław W Gawroński Michał M Kosierb Aneta A Ligas Joanna J Puchala Mateusz M Drelich-Zbroja Anna A Bednarska-Makaruk Małgorzata M Dąbrowski Wojciech W Ciara Elżbieta E Książyk Janusz B JB Pronicka Ewa E
Metabolic brain disease 20171107 1
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 pCO<sub>2</sub>). In patient 1, the deterioration occurred in temporal relation to passive oxygen therapy. To the contrary, on ...[more]