Journal article
Disorders of riboflavin metabolism
S Balasubramaniam, J Christodoulou, S Rahman
Journal of Inherited Metabolic Disease | WILEY | Published : 2019
DOI: 10.1002/jimd.12058
Abstract
Riboflavin (vitamin B2), a water-soluble vitamin, is an essential nutrient in higher organisms as it is not endogenously synthesised, with requirements being met principally by dietary intake. Tissue-specific transporter proteins direct riboflavin to the intracellular machinery responsible for the biosynthesis of the flavocoenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). These flavocoenzymes play a vital role in ensuring the functionality of a multitude of flavoproteins involved in bioenergetics, redox homeostasis, DNA repair, chromatin remodelling, protein folding, apoptosis, and other physiologically relevant processes. Hence, it is not surprising that the impair..
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Funding Acknowledgements
Lily Foundation; NIHR Great Ormond Street Hospital Biomedical Research Centre; Great Ormond Street Hospital Children's Charity; State Government of Victoria's Operational Infrastructure Support Program