Disorders of Mitochondrial Fatty Acid Oxidation &amp; Riboflavin Metabolism

Morris, Andrew A. M.; Spiekerkoetter, Ute

doi:10.1007/978-3-662-63123-2_12

Cited by 3 publications

(1 citation statement)

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“…In general, the therapeutic management of FAODs aims to balance the energy deprivation and accumulation of toxic intermediates resultant from these metabolic defects [37]. MCADD patients can usually be managed with avoiding long fasting and with carbohydrate and carnitine supplementation, as needed [38,39]. In long-chain FAODs, a lipidrestricted diet is needed, with an important part of the usual dietary lipids (long-chain) substituted by medium-chain triglycerides containing C8 FAs (MCT-C8).…”

Section: Mitochondrial Fatty Acid β-Oxidation Disorders (Faods)mentioning

confidence: 99%

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

Guerra

Ferreira

Melo

et al. 2022

IJMS

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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.

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Section: Mitochondrial Fatty Acid β-Oxidation Disorders (Faods)mentioning

confidence: 99%

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

Guerra

Ferreira

Melo

et al. 2022

IJMS

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Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon

Daher,

Taoum,

Samaha

et al. 2024

Orphanet J Rare Dis

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Background Fatty acid oxidation defects are rare autosomal recessive disorders with variable clinical manifestations and outcome. Early detection by systematic neonatal screening may improve their prognosis. Long-term outcome studies of these disorders in the Middle East and North Africa region are limited. The purpose of this study is to report the diagnostic challenges and outcome of fatty acid oxidation defects in a major tertiary care center in Lebanon, a resource-constrained country in the Middle East. Methods A retrospective review of charts of all fatty acid oxidation defects sequential patients diagnosed and followed at our center was conducted. Collected data included: parental consanguinity, age at diagnosis, clinical presentation, biochemical profile, confirmatory diagnosis, treatment and outcome. A genotype–phenotype correlation was also performed, when available. Results Seven types of fatty acid oxidation defects were identified in a total of 34 patients from 21 families. Most families (79%) were consanguineous (first-degree cousins). The majority were diagnosed when clinically symptomatic (78%), at various ages between 10 days and 19 years (average: 2 years). Follow-up duration spanned between 2 months and 15 years (average: 5 years). The remainder of the patients were detected while still asymptomatic by systematic neonatal screening (9%) or due to positive family history (9%). The most common defect was carnitine transporter deficiency (50%) with an exclusive cardiac presentation related to a founder variant c.981C > T, (p.Arg254*) in the SLC22A5 gene. Medium chain acyl-CoA dehydrogenase deficiency was found in 13% only, which could be explained by the absence of systematic neonatal screening. Rare gene variants were detected in very long chain and multiple acyl-CoA dehydrogenase deficiency. The worse prognosis was observed in very long chain acyl-CoA dehydrogenase deficiency. The overall survival at last follow-up reached 75% with a complete reversal of symptoms with treatment in most patients (63%), despite their late diagnosis. Conclusions Our experience highlights the diagnostic challenges and outcome of fatty acid oxidation defects in a resource-constrained country with high consanguinity rates. Physicians’ awareness and systematic neonatal screening are key for diagnosis. Larger genotype–phenotype studies are still needed to understand the natural history of these rare diseases and possibly improve their outcome.

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Inherited disorders of lipid metabolism (lipoproteins, fatty acids, cholesterol and sphingolipids)

Honzík,

Zeman

2024

Ces-slov Pediat

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Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism

Cited by 3 publications

References 54 publications

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

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

Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon

Inherited disorders of lipid metabolism (lipoproteins, fatty acids, cholesterol and sphingolipids)

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