Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
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.
Salviati
L
L
Università di Padova, Via Giustiniani 3, 35128 Padova, Italy. leonardo.salviati@unipd.it
Sacconi
S
S
Murer
L
L
Zacchello
G
G
Franceschini
L
L
Laverda
A M
AM
Basso
G
G
Quinzii
C
C
Angelini
C
C
Hirano
M
M
Naini
A B
AB
Navas
P
P
DiMauro
S
S
Montini
G
G
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
D003067:Coenzymes; D014451:Ubiquinone; D003404:Creatinine; C024989:coenzyme Q10