Effects of riboflavin in children with complex II deficiency.
Isolated complex II deficiency is a rare cause of mitochondrial disease in infancy and childhood. No satisfactory treatment is currently available, and affected patients undergo a relentlessly progressive motor and mental deterioration. We report on three complex II-deficient children treated with riboflavin per os, who were followed-up for a mean period of 4.5 years. In two patients with early-onset leukoencephalopathy, neurological condition remained stable or even moderately improved. In the third child, presenting in the first year of life with poor somatic growth and severe hyperlactacidemia, plasma lactate decreased to near-normal levels, and he did not develop signs of neurological involvement. Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls.
Bugiani
Marianna
M
Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milano, Italy. mbugiani@istituto-besta.it
Lamantea
Eleonora
E
Invernizzi
Federica
F
Moroni
Isabella
I
Bizzi
Alberto
A
Zeviani
Massimo
M
Uziel
Graziella
G
D015153:Blotting, Western / Q000379:methods; D002648:Child; D004185:Disability Evaluation; D042963:Electron Transport Complex II / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000187:drug effects; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000378:metabolism; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D028361:Mitochondrial Diseases / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D009132:Muscles / Q000737:chemistry / Q000187:drug effects; D012256:Riboflavin / Q000627:therapeutic use*; D013385:Succinate Dehydrogenase / Q000378:metabolism; D014803:Vitamin B Complex / Q000627:therapeutic use*
D007506:Iron-Sulfur Proteins; D014803:Vitamin B Complex; D042963:Electron Transport Complex II; C511268:SDHA protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D012256:Riboflavin