Effects of riboflavin in children with complex II deficiency.

TitleEffects of riboflavin in children with complex II deficiency.
Publication TypeJournal Article
Year of Publication2006
AuthorsBugiani, M, Lamantea, E, Invernizzi, F, Moroni, I, Bizzi, A, Zeviani, M, Uziel, G
JournalBrain Dev
Date Published2006 Oct
KeywordsBlotting, Western, Child, Disability Evaluation, Electron Transport Complex II, Female, Fibroblasts, Humans, Iron-Sulfur Proteins, Magnetic Resonance Imaging, Male, Mitochondrial Diseases, Muscles, Riboflavin, Succinate Dehydrogenase, Vitamin B Complex

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.

Alternate JournalBrain Dev.
Citation Key10.1016/j.braindev.2006.04.001
PubMed ID16737791