title: Clinical heterogeneity in respiratory chain complex III deficiency in childhood.
abstract: Six children are presented with an isolated complex III deficiency in muscle tissue. More specifically, oxidation rates and ATP+CrP production rates from both pyruvate and succinate as substrates and/or the activity of decylubiquinol:cytochrome c oxidoreductase were all markedly reduced. Complex III deficiency was also present in liver of two patients tested, but could not be demonstrated in cultured fibroblasts of four patients tested. Mitochondrial DNA, extracted from muscle, was analyzed; no deletions or common point mutations were found. Four patients presented with a multi-organ disorder. Among these patients three presented at neonatal age with neurological signs and lactate elevation in blood and CSF, of whom two had severe neonatal Fanconi syndrome. One child, aged seven years, had encephalomyopathy, ophthalmoplegia, retinopathy and Wolff-Parkinson-White syndrome. The remaining two patients exhibited myopathy only, within the first year of life. Thus, like in other respiratory chain disorders, patients with complex III deficiency may present at any age and show variable symptoms and outcome, ranging from neonatal death to failure to thrive only. Apparently there are no clinical findings which are specific for complex III deficiency.
authors.affiliation: Department of Pediatrics, University Hospital, Nijmegen, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Mourmans
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: H A
authors.initials: HA
authors.lastname: Bentlage
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: I F
authors.initials: IF
authors.lastname: de Coo
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics; D000255:Adenosine Triphosphate / Q000378:metabolism; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency* / Q000235:genetics; D005198:Fanconi Syndrome / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D008297:Male; D008930:Mitochondria, Liver / Q000201:enzymology; D008931:Mitochondria, Muscle / Q000201:enzymology; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology; D010725:Phosphocreatine / Q000378:metabolism; D012016:Reference Values
chemical_list: D004272:DNA, Mitochondrial; D007773:Lactates; D010725:Phosphocreatine; D000255:Adenosine Triphosphate; D014450:Electron Transport Complex III