Progression despite replacement of a myopathic form of coenzyme Q10 defect.
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.
Auré
K
K
INSERM U582, Institut de Myologie, Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
Benoist
J F
JF
Ogier de Baulny
H
H
Romero
N B
NB
Rigal
O
O
Lombès
A
A
D016227:Benzoquinones / Q000009:adverse effects / Q000627:therapeutic use; D002331:Carnitine / Q000627:therapeutic use; D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D018450:Disease Progression; D004359:Drug Therapy, Combination; D017079:Exercise Tolerance / Q000187:drug effects / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007773:Lactates / Q000097:blood*; D008279:Magnetic Resonance Imaging; D008931:Mitochondria, Muscle / Q000737:chemistry; D017240:Mitochondrial Myopathies / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000473:pathology; D017211:Treatment Failure; D014451:Ubiquinone / Q000172:deficiency* / Q000493:pharmacokinetics / Q000627:therapeutic use / Q000031:analogs & derivatives; D014839:Vomiting / Q000209:etiology
D016227:Benzoquinones; D007773:Lactates; D014451:Ubiquinone; C036619:idebenone; D002331:Carnitine