{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:46:06Z","timestamp":1758815166127},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Experimental data show that elevation of intracellular pH leads to severe lesions of brain cells. Acidification of intracellular fluid by accumulation of lactate may compensate the effect of respiratory alkalosis. Increased serum pH, and low <jats:italic>P<\/jats:italic>CO<jats:sub>2<\/jats:sub>, associated with hyperlactataemia (sometimes incorrectly called \u2018acidosis\u2019) have been reported in children with Leigh syndrome (LS).<\/jats:p><jats:p>The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations. All venous blood gas data (88 samples) of 18 spontaneously breathing LS patients with recently established SURF1 mutations, hospitalized during 1986\u20132000, were retrospectively reviewed. The data of an affected boy who survived on a respirator for more than 3 months (79 daily samples) were analysed separately.<\/jats:p><jats:p>In spontaneously breathing patients, the data indicated that the patients had compensated or partially compensated respiratory alkalosis (pH 7.388 \u00b1 0.060, <jats:italic>P<\/jats:italic>CO<jats:sub>2<\/jats:sub> 29.2 \u00b1 5.7 mmHg, HCO<jats:sup>\u2212<\/jats:sup><jats:sub>3<\/jats:sub> 17.4 \u00b1 3.0 mmol\/L, BE \u22126.7 \u00b1 3.2 mmol\/L). Bicarbonate excretion was detected in urine of two examined LS cases in spite of decreased serum HCO<jats:sup>\u2212<\/jats:sup><jats:sub>3<\/jats:sub>. In the affected child maintained on a respirator, simple manipulation of the inspired CO<jats:sub>2<\/jats:sub> tension to establish a normal pressure of 35\u201345 mmHg automatically caused an increase of serum HCO<jats:sup>\u2212<\/jats:sup><jats:sub>3<\/jats:sub> concentration to a normal value of 26.3 \u00b1 2.9 mmol\/L (and BE to +2.2 \u00b1 3.1 mmol\/L), in spite of cytochrome oxidase (COX) deficiency due to a confirmed SURF1 mutation.<\/jats:p><jats:p>We suggest that respiratory alkalosis (hypocapnia) of Leigh syndrome patients with SURF1 mutations results from compulsory hyperventilation and speculate that hypocapnia may contribute to Leigh\u2010like brain damage in the SURF1\u2010deficient patients as well as in other patients presenting with Leigh\u2010like syndrome. The supposition that accumulation of lactate may protect the brain of LS patients from alkalosis\u2010related damage requires further study. Avoidance of any factors stimulating hyperventilation of LS patients and caution when attempting to correct low plasma bicarbonate are suggested.<\/jats:p>","DOI":"10.1023\/a:1012937204315","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T15:14:19Z","timestamp":1040656459000},"page":"707-714","source":"Crossref","is-referenced-by-count":17,"title":["Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates"],"prefix":"10.1002","volume":"24","author":[{"given":"E.","family":"Pronicka","sequence":"first","affiliation":[{"name":"Department of Metabolic Diseases Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. H.","family":"Piekutowska\u2010Abramczuk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute  Warsaw"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Popowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Children's Memorial Health Institute  Warsaw"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pronicki","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Memorial Health Institute  Warsaw"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Karczmarewicz","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Sykut\u2010Cegielsk\u00e2","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Taybert","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-6576.1992.tb03420.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198909000-00021"},{"key":"e_1_2_1_4_1","first-page":"R221","article-title":"Regional cerebral blood flow and tissue oxygenation during hypocarbia in geese","volume":"263","author":"Bickler PE","year":"1992","journal-title":"Am J Physiol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1965.tb47469.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.12.1430"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005373-199205000-00014"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(92)90418-7"},{"key":"e_1_2_1_9_1","first-page":"845","article-title":"Diagnostic importance of an increased serum anion gap","volume":"303","author":"Grabow P","year":"1980","journal-title":"N Engl J Med"},{"key":"e_1_2_1_10_1","first-page":"131","article-title":"The effect of hypocapnia on skeletal muscle microcirculatory blood flow, oxygenation and pH","volume":"12","author":"Gustafsson U","year":"1993","journal-title":"Int J Microcirc Clin Exp"},{"issue":"1","key":"e_1_2_1_11_1","first-page":"148","article-title":"Clinical course of Saguenay\u2010Lac St\u2010Jean cytochrome oxidase deficiency (SLSJ\u2010COX), a retrospective study","volume":"23","author":"Janvier A","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_12_1","first-page":"1058","article-title":"Hypo\u2010und Hyperventilation: Konsequenzen fur den Saure\u2010Basen\u2010Haushalt","volume":"80","author":"Krapf R","year":"1991","journal-title":"Schweiz Rundsch Med Prax"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1992.340"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1989.66.6.2527"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1991.70.2.624"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/94.1.1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0676.1993.tb00600.x"},{"key":"e_1_2_1_19_1","first-page":"488","article-title":"Clinical, metabolic, and genetic aspects of cytochrome c oxidase deficiency in Saguenay\u2010Lac\u2010Saint\u2010Jean","volume":"53","author":"Morin C.","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","first-page":"319","article-title":"Arterial blood gases and acid\u2010base status of adult patients presenting with acute severe asthma at Kenyatta National Hospital, Nairobi","volume":"69","author":"Odhiambo JA","year":"1992","journal-title":"East Afr Med J"},{"key":"e_1_2_1_21_1","first-page":"103","article-title":"SURF1 gene mutations in Polish patients with COX deficient Leigh syndrome","volume":"42","author":"Pickutowska\u2010Abramczuk D","year":"2001","journal-title":"J Appl Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1991.71.6.2168"},{"issue":"2","key":"e_1_2_1_23_1","first-page":"113","article-title":"Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh disease","volume":"7","author":"Pronicka E","year":"1984","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365517109080214"},{"key":"e_1_2_1_25_1","first-page":"75","volume-title":"Acid\u2010Base and Electrolyte Balance. Normal Regulation and Clinical Disorders","author":"Solnick PB","year":"1977"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/38.3.443"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-3404-4_39"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1967.22.4.746"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1012937204315","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1012937204315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:06:06Z","timestamp":1694815566000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1012937204315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["10.1023\/A:1012937204315"],"URL":"https:\/\/doi.org\/10.1023\/a:1012937204315","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11]]}}}