Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine.
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.
Bernsen
P L
PL
Department of Child Neurology, St Radboud University Hospital, Nijmegen, The Netherlands.
Gabreëls
F J
FJ
Ruitenbeek
W
W
Sengers
R C
RC
Stadhouders
A M
AM
Renier
W O
WO
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*
D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases; D002331:Carnitine; D012256:Riboflavin