A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

Lund, Martin; Olsen, Rikke Kj; Gregersen, Niels

doi:10.1517/21678707.2015.1092869

Cited by 3 publications

(2 citation statements)

References 118 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mitochondrial electron transfer from fatty acid, amino acid and choline metabolism depends on a coordinated function of multiple flavoenzymes, many of which are ACADs. The first step of mitochondrial fatty acid oxidation is catalyzed by seven ACADs with different substrate specificity, namely short-(SCAD), medium-(MCAD), long-(LCAD), very long-(VLCAD) chain acyl-CoA dehydrogenase and the more recently characterized acyl-CoA dehydrogenase family members 9, 10 and 11 (ACAD9, ACAD10, ACAD11) [73]. Four ACADs are involved in amino acid metabolism; isovaleryl-CoA dehydrogenase (IVD), isobutyryl-CoA dehydrogenase (IBD), short/branched-chain acyl-CoA dehydrogenase (SBCAD) and glutaryl-CoA dehydrogenase (GCDH) [73].…”

Section: Multiple Acyl-coa Dehydrogenation Deficiencymentioning

confidence: 99%

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Mosegaard

Dipace

Bross

et al. 2020

IJMS

Self Cite

112

103

View full text Add to dashboard Cite

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.

show abstract

Section: Multiple Acyl-coa Dehydrogenation Deficiencymentioning

confidence: 99%

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Mosegaard

Dipace

Bross

et al. 2020

IJMS

Self Cite

112

103

View full text Add to dashboard Cite

show abstract

“…These steps are catalysed by several enzymes with chain-length specificities, which overlap [15,21]. The first step, the dehydrogenation of the acyl-CoA ester to a trans-2-enoyl-CoA, is catalysed by different acyl-CoA dehydrogenases [15,24]. The short-chain acyl-CoA dehydrogenase (SCAD) acts on substrates with a chain length between C4 and C6, the medium-chain acyl-CoA dehydrogenase (MCAD) acts on C6 to C12 substrates, and the very long chain acyl-CoA dehydrogenase (VLCAD) is active with substrates ranging from C14 to C24 [16,23,25].…”

Section: Mitochondrial Fatty Acid β-Oxidationmentioning

confidence: 99%

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

Guerra

Ferreira

Melo

et al. 2022

IJMS

View full text Add to dashboard Cite

Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to life-threatening complications and comorbidities. Changes in the lipidome have been associated with several diseases, including some IEMs. In FAODs, the alteration of acylcarnitines (CARs) and FA profiles have been reported in patients and animal models, but changes in polar and neutral lipid profile are still scarcely studied. In this review, we present the main findings on FA and CAR profile changes associated with FAOD pathogenesis, their correlation with oxidative damage, and the consequent disturbance of mitochondrial homeostasis. Moreover, alterations in polar and neutral lipid classes and lipid species identified so far and their possible role in FAODs are discussed. We highlight the need of mass-spectrometry-based lipidomic studies to understand (epi)lipidome remodelling in FAODs, thus allowing to elucidate the pathophysiology and the identification of possible biomarkers for disease prognosis and an evaluation of therapeutic efficacy.

show abstract

Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype

Brandão

Ferreira

Rocha

2019

Archives of Physiology and Biochemistry

View full text Add to dashboard Cite

A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

Cited by 3 publications

References 118 publications

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype

Contact Info

Product

Resources

About