title: Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine.
abstract: We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (complex I). The patient dramatically improved on treatment with riboflavin and L-carnitine. Seven months after the start of the treatment, complex I activity was determined again and appeared to be normalized. Normalization of the enzymatic defect at this level has not been reported before. We provide a survey of nine patients with pure myopathy, associated with complex I deficiency and onset of symptoms in childhood.
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: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: A M
authors.initials: AM
authors.lastname: Stadhouders
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
mesh_terms: D001706:Biopsy; D002331:Carnitine / Q000627:therapeutic use*; D002648:Child; D004359:Drug Therapy, Combination; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency*; D012256:Riboflavin / Q000627:therapeutic use*
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases; D002331:Carnitine; D012256:Riboflavin