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Disorder of fatty acid metabolism

MedGen UID:
468968
•Concept ID:
C0268634
•
Disease or Syndrome
Synonyms: Disorder of fat oxidation; Fatty acid oxidation disorder; Fatty Acid Oxidation Disorders; Inherited fatty acid metabolism disorder
SNOMED CT: Disorders of fatty-acid metabolism (39929009); Disorder of fat oxidation (39929009); Disorder of fatty acid metabolism (39929009)
 
Related genes: SLC22A5, ETFDH, ETFB, ETFA, CPT2, CPT1A, SLC25A20, ACADVL, ACADM
 
Monarch Initiative: MONDO:0037858

Definition

A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. [from NCI]

Professional guidelines

PubMed

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U
PLoS One 2012;7(9):e45110. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0045110. PMID: 23028790Free PMC Article

Recent clinical studies

Etiology

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Wang C, Lv H, Xu X, Ma Y, Li Q
Mol Med Rep 2020 Nov;22(5):4396-4402. Epub 2020 Sep 18 doi: 10.3892/mmr.2020.11524. PMID: 33000234Free PMC Article
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.
Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH
Free Radic Res 2018 Dec;52(11-12):1445-1455. Epub 2018 Sep 11 doi: 10.1080/10715762.2018.1500695. PMID: 30003820
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U
PLoS One 2012;7(9):e45110. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0045110. PMID: 23028790Free PMC Article
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M
Neurol Sci 2012 Dec;33(6):1383-7. Epub 2011 Dec 22 doi: 10.1007/s10072-011-0900-1. PMID: 22190129
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.
Ho JK, Moser H, Kishimoto Y, Hamilton JA
J Clin Invest 1995 Sep;96(3):1455-63. doi: 10.1172/JCI118182. PMID: 7657817Free PMC Article

Diagnosis

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
Wang C, Lv H, Xu X, Ma Y, Li Q
Mol Med Rep 2020 Nov;22(5):4396-4402. Epub 2020 Sep 18 doi: 10.3892/mmr.2020.11524. PMID: 33000234Free PMC Article
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M
Neurol Sci 2012 Dec;33(6):1383-7. Epub 2011 Dec 22 doi: 10.1007/s10072-011-0900-1. PMID: 22190129
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation.
McClaskey JH, Leman AR, Rothberg PG
Genet Test 2005 Spring;9(1):1-5. doi: 10.1089/gte.2005.9.1. PMID: 15857179
The changing face of disorders of fatty acid oxidation.
Vockley J
Mayo Clin Proc 1994 Mar;69(3):249-57. doi: 10.1016/s0025-6196(12)61064-7. PMID: 8133663
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF
Pediatr Res 1990 Dec;28(6):657-62. doi: 10.1203/00006450-199012000-00023. PMID: 2284166

Therapy

Prolonged neuraxial block following spinal anaesthesia in a patient with carnitine palmitoyl transferase II deficiency undergoing caesarean section.
Rasheed MA, Murphy D
Int J Obstet Anesth 2023 Aug;55:103895. Epub 2023 May 9 doi: 10.1016/j.ijoa.2023.103895. PMID: 37276780
Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.
Al-Busaidi SA, Al Nou'mani JA, Al-Falahi Z, Al-Farsi R, Kumar S, Al-Murshedi F, Awlad-Thani K, Al Nabhani A, Al Alawi AM
Clin Biochem 2023 Jun;116:16-19. Epub 2023 Mar 7 doi: 10.1016/j.clinbiochem.2023.03.005. PMID: 36893960
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.
Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH
Free Radic Res 2018 Dec;52(11-12):1445-1455. Epub 2018 Sep 11 doi: 10.1080/10715762.2018.1500695. PMID: 30003820
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M
Neurol Sci 2012 Dec;33(6):1383-7. Epub 2011 Dec 22 doi: 10.1007/s10072-011-0900-1. PMID: 22190129
Abnormal fatty acid metabolism in childhood spinal muscular atrophy.
Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI
Ann Neurol 1999 Mar;45(3):337-43. doi: 10.1002/1531-8249(199903)45:3<337::aid-ana9>3.0.co;2-u. PMID: 10072048

Prognosis

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U
PLoS One 2012;7(9):e45110. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0045110. PMID: 23028790Free PMC Article
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R
J Clin Apher 2012;27(2):99-105. Epub 2012 Jan 20 doi: 10.1002/jca.21200. PMID: 22267052
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.
Ho JK, Moser H, Kishimoto Y, Hamilton JA
J Clin Invest 1995 Sep;96(3):1455-63. doi: 10.1172/JCI118182. PMID: 7657817Free PMC Article
The changing face of disorders of fatty acid oxidation.
Vockley J
Mayo Clin Proc 1994 Mar;69(3):249-57. doi: 10.1016/s0025-6196(12)61064-7. PMID: 8133663

Clinical prediction guides

Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R
J Clin Apher 2012;27(2):99-105. Epub 2012 Jan 20 doi: 10.1002/jca.21200. PMID: 22267052
Potential application of tissue Doppler imaging to assess regional left ventricular diastolic function in patients with hypertrophic cardiomyopathy: comparison with 123I-beta-methyl iodophenyl pentadecanoic acid myocardial scintigraphy.
Yamada H, Oki T, Yamamoto T, Tanaka H, Tabata T, Wakatsuki T, Nomura M, Ito S, Thomas JD
Clin Cardiol 2004 Jan;27(1):33-9. doi: 10.1002/clc.4960270109. PMID: 14743854Free PMC Article
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy.
Ho JK, Moser H, Kishimoto Y, Hamilton JA
J Clin Invest 1995 Sep;96(3):1455-63. doi: 10.1172/JCI118182. PMID: 7657817Free PMC Article
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
Corkey BE, Hale DE, Glennon MC, Kelley RI, Coates PM, Kilpatrick L, Stanley CA
J Clin Invest 1988 Sep;82(3):782-8. doi: 10.1172/JCI113679. PMID: 3417871Free PMC Article

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