title: Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
abstract: Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.
authors.affiliation: Università di Padova, Via Giustiniani 3, 35128 Padova, Italy. leonardo.salviati@unipd.it
authors.forename: L
authors.initials: L
authors.lastname: Salviati
authors.forename: S
authors.initials: S
authors.lastname: Sacconi
authors.forename: L
authors.initials: L
authors.lastname: Murer
authors.forename: G
authors.initials: G
authors.lastname: Zacchello
authors.forename: L
authors.initials: L
authors.lastname: Franceschini
authors.forename: A M
authors.initials: AM
authors.lastname: Laverda
authors.forename: G
authors.initials: G
authors.lastname: Basso
authors.forename: C
authors.initials: C
authors.lastname: Quinzii
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: A B
authors.initials: AB
authors.lastname: Naini
authors.forename: P
authors.initials: P
authors.lastname: Navas
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: G
authors.initials: G
authors.lastname: Montini
mesh_terms: D001284:Atrophy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D003067:Coenzymes; D003404:Creatinine / Q000097:blood; D018450:Disease Progression; D042241:Early Diagnosis; D004579:Electron Transport / Q000187:drug effects / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology* / Q000503:physiopathology / Q000517:prevention & control*; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000187:drug effects / Q000378:metabolism; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000188:drug therapy* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D020127:Recovery of Function / Q000187:drug effects / Q000502:physiology; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000627:therapeutic use
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; D003404:Creatinine; C024989:coenzyme Q10