Riboflavin deficiency—implications for general human health and inborn errors of metabolism

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Riboflavin deficiency—implications for general human health and inborn errors of metabolism. / Mosegaard, Signe; Dipace, Graziana; Bross, Peter; Carlsen, Jasper; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

In: International Journal of Molecular Sciences , Vol. 21, No. 11, 3847, 06.2020.

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@article{dc1871ea8816423685524d97eb26a28b,
title = "Riboflavin deficiency—implications for general human health and inborn errors of metabolism",
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.",
keywords = "Acyl-CoA dehydrogenases, Electron transport chain, Energy metabolism, Fatty acid oxidation, Folding, Inborn errors of metabolism, MADD, Mitochondria, Riboflavin, Riboflavin deficiency",
author = "Signe Mosegaard and Graziana Dipace and Peter Bross and Jasper Carlsen and Niels Gregersen and Olsen, {Rikke Katrine Jentoft}",
year = "2020",
month = jun,
doi = "10.3390/ijms21113847",
language = "English",
volume = "21",
journal = "International Journal of Molecular Sciences ",
issn = "1661-6596",
publisher = "MDPI AG",
number = "11",

}

RIS

TY - JOUR

T1 - Riboflavin deficiency—implications for general human health and inborn errors of metabolism

AU - Mosegaard, Signe

AU - Dipace, Graziana

AU - Bross, Peter

AU - Carlsen, Jasper

AU - Gregersen, Niels

AU - Olsen, Rikke Katrine Jentoft

PY - 2020/6

Y1 - 2020/6

N2 - 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.

AB - 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.

KW - Acyl-CoA dehydrogenases

KW - Electron transport chain

KW - Energy metabolism

KW - Fatty acid oxidation

KW - Folding

KW - Inborn errors of metabolism

KW - MADD

KW - Mitochondria

KW - Riboflavin

KW - Riboflavin deficiency

UR - http://www.scopus.com/inward/record.url?scp=85085675917&partnerID=8YFLogxK

U2 - 10.3390/ijms21113847

DO - 10.3390/ijms21113847

M3 - Review

C2 - 32481712

AN - SCOPUS:85085675917

VL - 21

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 11

M1 - 3847

ER -