Effects of riboflavin in children with complex II deficiency

Marianna Bugiani, Eleonora Lamantea, Federica Invernizzi, Isabella Moroni, Alberto Bizzi, Massimo Zeviani, Graziella Uziel

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)576-581
Number of pages6
JournalBrain and Development
Volume28
Issue number9
DOIs
Publication statusPublished - Oct 2006

Keywords

  • Complex II deficiency
  • Leukoencephalopathy
  • Mitochondrial disorders
  • Riboflavin

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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