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Acyl-CoA dehydrogenase deficiency

MedGen UID:
541378
•Concept ID:
C0268635
•
Disease or Syndrome
Synonyms: acyl-CoA dehydrogenase deficiency; Acyl-coenzyme A dehydrogenase deficiency; Deficiency of acyl-CoA dehydrogenase
SNOMED CT: Acyl-CoA dehydrogenase deficiency (82319005); Deficiency of acyl-CoA dehydrogenase (82319005); Acyl-coenzyme A dehydrogenase deficiency (82319005)
 
Monarch Initiative: MONDO:0017714
Orphanet: ORPHA309120

Professional guidelines

PubMed

Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening.
Howard C, Gorman I, Crushell E, Knerr I, Hughes J, Boruah R, O'Grady L, Elsammak MY, Brady JJ, Monavari AA
Ir Med J 2023 Mar 23;116(3):743. PMID: 37010499
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606Free PMC Article
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005

Recent clinical studies

Etiology

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L
Mol Genet Genomic Med 2023 Jun;11(6):e2152. Epub 2023 Feb 14 doi: 10.1002/mgg3.2152. PMID: 36787440Free PMC Article
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
McGregor TL, Berry SA, Dipple KM, Hamid R; COUNCIL ON GENETICS
Pediatrics 2021 Jan;147(1) doi: 10.1542/peds.2020-040303. PMID: 33372121
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Lang TF
J Inherit Metab Dis 2009 Dec;32(6):675-683. Epub 2009 Oct 11 doi: 10.1007/s10545-009-1202-0. PMID: 19821147
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
Walter JH
J Inherit Metab Dis 2009 Apr;32(2):214-7. Epub 2009 Mar 4 doi: 10.1007/s10545-009-1087-y. PMID: 19255872

Diagnosis

Late-onset myopathies.
Salort-Campana E, Attarian S
Curr Opin Neurol 2024 Oct 1;37(5):523-535. Epub 2024 Jul 16 doi: 10.1097/WCO.0000000000001298. PMID: 39017649
Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening.
Howard C, Gorman I, Crushell E, Knerr I, Hughes J, Boruah R, O'Grady L, Elsammak MY, Brady JJ, Monavari AA
Ir Med J 2023 Mar 23;116(3):743. PMID: 37010499
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606Free PMC Article
Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.
Takizaki N, Hanakawa J, Iwano R, Hirano Y, Muroya K
Pediatr Int 2021 Aug;63(8):992-994. Epub 2021 Jun 29 doi: 10.1111/ped.14666. PMID: 34184355Free PMC Article
Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.
Coates PM
Prog Clin Biol Res 1992;375:409-23. PMID: 1438385

Therapy

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF
Mitochondrion 2024 Sep;78:101905. Epub 2024 May 24 doi: 10.1016/j.mito.2024.101905. PMID: 38797357Free PMC Article
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606Free PMC Article
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
McGregor TL, Berry SA, Dipple KM, Hamid R; COUNCIL ON GENETICS
Pediatrics 2021 Jan;147(1) doi: 10.1542/peds.2020-040303. PMID: 33372121
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
Gordon N
Dev Med Child Neurol 2005 Mar;47(3):207-10. doi: 10.1017/s0012162205000381. PMID: 15739728

Prognosis

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF
Mitochondrion 2024 Sep;78:101905. Epub 2024 May 24 doi: 10.1016/j.mito.2024.101905. PMID: 38797357Free PMC Article
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L
Mol Genet Genomic Med 2023 Jun;11(6):e2152. Epub 2023 Feb 14 doi: 10.1002/mgg3.2152. PMID: 36787440Free PMC Article
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606Free PMC Article
An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
Eskell M, Khan H
J R Coll Physicians Edinb 2022 Sep;52(3):256-258. Epub 2022 Sep 3 doi: 10.1177/14782715221121021. PMID: 36369806
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
Gordon N
Dev Med Child Neurol 2005 Mar;47(3):207-10. doi: 10.1017/s0012162205000381. PMID: 15739728

Clinical prediction guides

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L
Mol Genet Genomic Med 2023 Jun;11(6):e2152. Epub 2023 Feb 14 doi: 10.1002/mgg3.2152. PMID: 36787440Free PMC Article
An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.
Eskell M, Khan H
J R Coll Physicians Edinb 2022 Sep;52(3):256-258. Epub 2022 Sep 3 doi: 10.1177/14782715221121021. PMID: 36369806
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S
Brain Dev 2017 Jan;39(1):48-57. Epub 2016 Aug 30 doi: 10.1016/j.braindev.2016.08.004. PMID: 27591119
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L
J Inherit Metab Dis 2015 Jan;38(1):145-56. Epub 2014 Aug 5 doi: 10.1007/s10545-014-9749-9. PMID: 25091424
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N
Am J Hum Genet 1999 Feb;64(2):479-94. doi: 10.1086/302261. PMID: 9973285Free PMC Article

Recent systematic reviews

The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J, Zhang H, Liang F, Li G, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W
Orphanet J Rare Dis 2024 Feb 16;19(1):72. doi: 10.1186/s13023-024-03072-6. PMID: 38365830Free PMC Article
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.
Manta A, Spendiff S, Lochmüller H, Thompson R
J Neuromuscul Dis 2021;8(3):401-417. doi: 10.3233/JND-200621. PMID: 33720849Free PMC Article
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ
Genet Med 2020 May;22(5):908-916. Epub 2020 Jan 6 doi: 10.1038/s41436-019-0739-z. PMID: 31904027Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ
Genet Med 2006 Apr;8(4):205-12. doi: 10.1097/01.gim.0000204472.25153.8d. PMID: 16617240

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