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.
INSERM U582, Institut de Myologie, Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
K
K
Auré
J F
JF
Benoist
H
H
Ogier de Baulny
N B
NB
Romero
O
O
Rigal
A
A
Lombès
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