Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism
Open Access
- 28 May 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 21 (11), 3847
- https://doi.org/10.3390/ijms21113847
Abstract
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with abundant sources of riboflavin-rich dietary products. A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic disturbances or environmental and physiological factors like infections, exercise, diet, aging and pregnancy. Riboflavin, and more importantly its derivatives, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), play a crucial role in essential cellular processes including mitochondrial energy metabolism, stress responses, vitamin and cofactor biogenesis, where they function as cofactors to ensure the catalytic activity and folding/stability of flavoenzymes. Numerous inborn errors of flavin metabolism and flavoenzyme function have been described, and supplementation with riboflavin has in many cases been shown to be lifesaving or to mitigate symptoms. This review discusses the environmental, physiological and genetic factors that affect cellular riboflavin status. We describe the crucial role of riboflavin for general human health, and the clear benefits of riboflavin treatment in patients with inborn errors of metabolism.Funding Information
- Lundbeckfonden (R263‐2017‐4384)
This publication has 147 references indexed in Scilit:
- The human flavoproteomeArchives of Biochemistry and Biophysics, 2013
- Bacterial Over-Expression and Purification of the 3'phosphoadenosine 5'phosphosulfate (PAPS) Reductase Domain of Human FAD Synthase: Functional Characterization and Homology ModelingInternational Journal of Molecular Sciences, 2012
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown‐Vialetto‐Van Laere syndromeJournal of Inherited Metabolic Disease, 2012
- B Vitamins in Breast Milk: Relative Importance of Maternal Status and Intake, and Effects on Infant Status and functionAdvances in Nutrition: An International Review Journal, 2012
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingJournal of Medical Genetics, 2012
- Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motifBMC Structural Biology, 2011
- Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentJournal of Inherited Metabolic Disease, 2010
- Oxidative Protein Folding and the Quiescin–Sulfhydryl Oxidase Family of FlavoproteinsAntioxidants and Redox Signaling, 2010
- Nutrition and Athletic PerformanceMedicine & Science in Sports & Exercise, 2009
- Light (phototherapy)-induced riboflavin deficiency in the neonateThe Journal of Pediatrics, 1977