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Balasubramaniam et al. J Transl Genet Genom 2020;4:285-306 Journal of Translational
DOI: 10.20517/jtgg.2020.34 Genetics and Genomics

Review Open Access

Riboflavin metabolism: role in mitochondrial
function

Shanti Balasubramaniam , Joy Yaplito-Lee 2,3
1
1 Genetic Metabolic Disorders Service, The Children’s Hospital, Sydney Children’s Hospital Network, Sydney, NSW 2145,
Australia.
2 Department of Metabolic Medicine, The Royal Children’s Hospital, Parkville, VIC 3052, Australia.
3 Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.

Correspondence to: Dr. Shanti Balasubramaniam, Genetic Metabolic Disorders Service, Theh Children's Hospital at Westmead,
Sydney Children’s Hospital Network, Cnr Hawkesbury Rd and Hainsworth St, Locked Bag 4001, Sydney, NSW 2145, Australia.
E-mail: shanti.balasubramaniam@health.nsw.gov.au

How to cite this article: Balasubramaniam S, Yaplito-Lee J. Riboflavin metabolism: role in mitochondrial function. J Transl Genet
Genom 2020;4:285-306. http://dx.doi.org/10.20517/jtgg.2020.34

Received: 15 May 2020 First Decision: 16 Jun 2020 Revised: 9 Jul 2020 Accepted: 14 Jul 2020 Available online: 7 Aug 2020

Academic Editor: Andrea L. Gropman Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

Abstract
Riboflavin, known as vitamin B2, a water-soluble vitamin, is an essential nutrient in vertebrates, hence adequate
dietary intake is imperative. Riboflavin plays a role in a variety of metabolic pathways, serving primarily as an
integral component of its crucial biologically active forms, the flavocoenzymes flavin adenine dinucleotide and
flavin mononucleotide. These flavocoenzymes ensure the functionality of numerous flavoproteins including
dehydrogenases, oxidases, monooxygenases, and reductases, which play pivotal roles in mitochondrial electron
transport chain, β-oxidation of fatty acids, redox homeostasis, citric acid cycle, branched-chain amino acid
catabolism, chromatin remodeling, DNA repair, protein folding, and apoptosis. Unsurprisingly, impairment of
flavin homeostasis in humans has been linked to various diseases including neuromuscular and neurological
disorders, abnormal fetal development, and cardiovascular diseases. This review presents an overview of riboflavin
metabolism, its role in mitochondrial function, primary and secondary flavocoenzyme defects associated with
mitochondrial dysfunction, and the role of riboflavin supplementation in these conditions.

Keywords: Mitochondria, riboflavin, flavocoenzymes, primary flavocoenzyme defects, secondary flavoproteome
defects, riboflavin responsive disorders

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
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