title: Treatment of complex I deficiency with riboflavin.
abstract: We have evaluated the effects of treatment with riboflavin in five patients with a mitochondrial myopathy, associated with a complex I (NADH dehydrogenase) deficiency. Two patients suffered from a clinically pure myopathy and the other patients presented with encephalomyopathic features. Treatment with riboflavin resulted in a clear clinical improvement in the two patients with the myopathic form of complex I deficiency. However, only one of the patients with the encephalomyopathic form improved during therapy. In three of the four patients in whom complex I activity in muscle tissue has been determined again during therapy, complex I activity appeared to be normalized. The clinical effects of treatment in this group of patients do not correlate well with normalization of complex I activity.
authors.affiliation: Department of Child Neurology, St. Radboud University Hospital, Nijmegen, The Netherlands.
authors.forename: P L
authors.initials: PL
authors.lastname: Bernsen
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: H L
authors.initials: HL
authors.lastname: Hamburger
mesh_terms: D000293:Adolescent; D000328:Adult; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology; D005260:Female; D006801:Humans; D007773:Lactates / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000473:pathology / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology; D009132:Muscles / Q000473:pathology; D009245:NADH Dehydrogenase / Q000172:deficiency*; D012256:Riboflavin / Q000627:therapeutic use*; D014057:Tomography, X-Ray Computed
chemical_list: D007773:Lactates; D009245:NADH Dehydrogenase; D002331:Carnitine; D012256:Riboflavin