{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:47:28Z","timestamp":1791136048712,"version":"4.1.0"},"reference-count":19,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,11,1]]},"abstract":"<jats:p>OBJECTIVES. The goals were to examine the frequency of perinatal manifestations of mitochondrial oxidative phosphorylation disorders within a population-based cohort, to characterize these manifestations, to identify a possible association between these manifestations and diagnoses at a later age, and to identify possible associations between perinatal complications and specific disorders.<\/jats:p>\n                  <jats:p>METHODS. We conducted a retrospective review of clinical and laboratory records for all patients with definitive oxidative phosphorylation disorders who were diagnosed and treated at the Royal Children's Hospital in Melbourne between 1975 and 2006 (N = 107; male\/female ratio: 1.41).<\/jats:p>\n                  <jats:p>RESULTS. Neonatal presentation was recorded for 32 of 107 patients (male\/female ratio: 1:1), including 19 who presented on day 1 of life. Prematurity (gestational age of &amp;lt;37 weeks) was noted for 12.6% of the 107 patients. Of the 85 infants with known birth weights, 24 were in the \u226410th percentile for gestational age (11 with complex I deficiency), and 9 of those (6 with complex I deficiency) were in the &amp;lt;3rd percentile. The most common presenting neonatal symptoms after the first day of life were poor feeding, recurrent vomiting, and failure to thrive. We noted 3 main clinical neonatal forms of oxidative phosphorylation disorders (encephalomyopathic, hepatointestinal, and cardiac). Of the 32 infants, 28 died (13 in the neonatal period). Complex I deficiency was identified for 15 neonates, combined complexes I, III, and IV deficiency for 7 neonates, and combined complexes I and IV deficiency for 3 neonates. No neonates had complex IV deficiency. Six neonates had nuclear mutations, and 2 neonates had the mitochondrial DNA 8993T&amp;gt;G mutation.<\/jats:p>\n                  <jats:p>CONCLUSIONS. Oxidative phosphorylation disorders present commonly in the neonatal period. The combination of nonspecific manifestations such as prematurity and intrauterine growth retardation with early postnatal decompensation or poor feeding or vomiting and persistent lactic acidosis should suggest the possibility of an oxidative phosphorylation disorder.<\/jats:p>","DOI":"10.1542\/peds.2007-3502","type":"journal-article","created":{"date-parts":[[2008,10,31]],"date-time":"2008-10-31T09:45:14Z","timestamp":1225446314000},"page":"1003-1008","source":"Crossref","is-referenced-by-count":80,"title":["Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses"],"prefix":"10.1542","volume":"122","author":[{"given":"Kate","family":"Gibson","sequence":"first","affiliation":[{"name":"Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane L.","family":"Halliday","sequence":"additional","affiliation":[{"name":"Departments of Public Health Genetics"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise M.","family":"Kirby","sequence":"additional","affiliation":[{"name":"Mitochondrial Research, Murdoch Children's Research Institute, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Yaplito-Lee","sequence":"additional","affiliation":[{"name":"Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Thorburn","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"},{"name":"Mitochondrial Research, Murdoch Children's Research Institute, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avihu","family":"Boneh","sequence":"additional","affiliation":[{"name":"Metabolic Service, Genetic Health Services Victoria, Victoria and Royal Children's Hospital, Melbourne, Australia"},{"name":"Departments of Public Health Genetics"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2008,11,1]]},"reference":[{"key":"2021120902421566800_R1","doi-asserted-by":"crossref","unstructured":"Munnich A, Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet.\u20082001;106(1):4\u201317","DOI":"10.1002\/ajmg.1391"},{"key":"2021120902421566800_R2","doi-asserted-by":"crossref","unstructured":"von Kleist-Retzow JC, Cormier-Daire V, Viot G, et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr.\u20082003;143(2):208\u2013212","DOI":"10.1067\/S0022-3476(03)00130-6"},{"key":"2021120902421566800_R3","doi-asserted-by":"crossref","unstructured":"Skladal D, Sudmeier C, Konstantopoulou V, et al. The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr (Phila).\u20082003;42(8):703\u2013710","DOI":"10.1177\/000992280304200806"},{"key":"2021120902421566800_R4","doi-asserted-by":"crossref","unstructured":"Labarthe F, Dobbelaere D, Devisme L, et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol.\u20082005;43(2):333\u2013341","DOI":"10.1016\/j.jhep.2005.03.023"},{"key":"2021120902421566800_R5","doi-asserted-by":"crossref","unstructured":"Rahman S, Hargreaves I, Clayton P, Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr.\u20082001;139(3):456\u2013458","DOI":"10.1067\/mpd.2001.117575"},{"key":"2021120902421566800_R6","doi-asserted-by":"crossref","unstructured":"Cormier-Daire V, Chretien D, Rustin P, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr.\u20081997;130(5):817\u2013822","DOI":"10.1016\/S0022-3476(97)80027-3"},{"key":"2021120902421566800_R7","doi-asserted-by":"crossref","unstructured":"Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr.\u20082007;150(4):407\u2013411","DOI":"10.1016\/j.jpeds.2006.12.047"},{"key":"2021120902421566800_R8","doi-asserted-by":"crossref","unstructured":"Goldenberg A, Ngoc LH, Thouret MC, et al. Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol.\u20082005;20(4):465\u2013469","DOI":"10.1007\/s00467-004-1725-4"},{"key":"2021120902421566800_R9","doi-asserted-by":"crossref","unstructured":"Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology.\u20082002;59(9):1406\u20131411","DOI":"10.1212\/01.WNL.0000033795.17156.00"},{"key":"2021120902421566800_R10","doi-asserted-by":"crossref","unstructured":"Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology.\u20081999;52(6):1255\u20131264","DOI":"10.1212\/WNL.52.6.1255"},{"key":"2021120902421566800_R11","unstructured":"Riley MH, Davey MA, King J. Births in Victoria 1983\u20131992. Melbourne, Australia: Victorian Perinatal Data Collection Unit, Victorian Government Department of Human Services; 1994"},{"key":"2021120902421566800_R12","unstructured":"Riley MH, Davey MA, King J. Births in Victoria 1996\u20131998. Melbourne, Australia: Victorian Perinatal Data Collection Unit, Victorian Government Department of Human Services; 1999"},{"key":"2021120902421566800_R13","unstructured":"Riley MH, Davey MA, King J. Births in Victoria 2003\u20132004. Melbourne, Australia: Victorian Perinatal Data Collection Unit, Victorian Government Department of Human Services; 2005"},{"key":"2021120902421566800_R14","doi-asserted-by":"crossref","unstructured":"Garci\u0301a-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G, Saudubray JM. Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients. Pediatrics.\u20082005;116(5):1170\u20131177","DOI":"10.1542\/peds.2004-2407"},{"key":"2021120902421566800_R15","doi-asserted-by":"crossref","unstructured":"Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics.\u20082004;114(4):925\u2013931","DOI":"10.1542\/peds.2004-0718"},{"key":"2021120902421566800_R16","doi-asserted-by":"crossref","unstructured":"Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet.\u20082001;29(3):337\u2013341","DOI":"10.1038\/ng746"},{"key":"2021120902421566800_R17","doi-asserted-by":"crossref","unstructured":"Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC. The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology.\u20082001;34(4):776\u2013784","DOI":"10.1053\/jhep.2001.27664"},{"key":"2021120902421566800_R18","doi-asserted-by":"crossref","unstructured":"Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase \u03b3 gene. Brain.\u20082006;129(7):1674\u20131684","DOI":"10.1093\/brain\/awl088"},{"key":"2021120902421566800_R19","doi-asserted-by":"crossref","unstructured":"Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC Pediatr.\u20082002;2:12","DOI":"10.1186\/1471-2431-2-12"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/122\/5\/1003\/1176775\/zpe01108001003.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/122\/5\/1003\/1176775\/zpe01108001003.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T10:17:38Z","timestamp":1639045058000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/122\/5\/1003\/71544\/Mitochondrial-Oxidative-Phosphorylation-Disorders"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,1]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2008,11,1]]},"published-print":{"date-parts":[[2008,11,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2007-3502","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,1]]}}}