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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: 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
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033

Recent clinical studies

Etiology

ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
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
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network
Orphanet J Rare Dis 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. PMID: 31937333Free PMC Article
Round Table Discussion.
Winter S, Buist NR, Longo N, Armenian SH, Lopaschuk G, Wasilewska A
Ann Nutr Metab 2016;68 Suppl 3:21-23. Epub 2016 Dec 9 doi: 10.1159/000448323. PMID: 27931031
Spectrum of metabolic myopathies.
Angelini C
Biochim Biophys Acta 2015 Apr;1852(4):615-21. Epub 2014 Jul 2 doi: 10.1016/j.bbadis.2014.06.031. PMID: 24997454

Diagnosis

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
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S
Eur J Neurol 2020 Nov;27(11):2257-2266. Epub 2020 Jul 24 doi: 10.1111/ene.14402. PMID: 32558070Free PMC Article
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z, Olsen RKJ, Gregersen N
J Inherit Metab Dis 2017 Sep;40(5):641-655. Epub 2017 May 17 doi: 10.1007/s10545-017-0047-1. PMID: 28516284
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ
Mol Genet Metab 2015 Nov;116(3):139-45. Epub 2015 Sep 2 doi: 10.1016/j.ymgme.2015.08.011. PMID: 26385305Free PMC Article
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033

Therapy

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
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Round Table Discussion.
Winter S, Buist NR, Longo N, Armenian SH, Lopaschuk G, Wasilewska A
Ann Nutr Metab 2016;68 Suppl 3:21-23. Epub 2016 Dec 9 doi: 10.1159/000448323. PMID: 27931031
Newborn screening.
Wilcken B, Wiley V
Pathology 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. PMID: 18203033
Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C
Arch Dis Child 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. PMID: 1739332Free PMC Article

Prognosis

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
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D, Ye M, Hu Z, Zhang Y, Zhu L, Yang R, Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):454-462. doi: 10.3724/zdxbyxb-2021-0261. PMID: 34704421Free PMC Article
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C
Crit Rev Biochem Mol Biol 2021 Aug;56(4):360-372. Epub 2021 Apr 7 doi: 10.1080/10409238.2021.1908952. PMID: 33823724
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.
Tucci S
J Inherit Metab Dis 2017 May;40(3):317-323. Epub 2017 Feb 28 doi: 10.1007/s10545-017-0016-8. PMID: 28247148
Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C
Arch Dis Child 1992 Jan;67(1):142-5. doi: 10.1136/adc.67.1.142. PMID: 1739332Free PMC Article

Clinical prediction guides

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
Odendaal C, Jager EA, Martines AMF, Vieira-Lara MA, Huijkman NCA, Kiyuna LA, Gerding A, Wolters JC, Heiner-Fokkema R, van Eunen K, Derks TGJ, Bakker BM
BMC Biol 2023 Sep 4;21(1):184. doi: 10.1186/s12915-023-01652-9. PMID: 37667308Free PMC Article
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Karunanidhi A, Basu S, Zhao XJ, D'Annibale O, Van't Land C, Vockley J, Mohsen AW
Mol Genet Metab 2023 Nov;140(3):107689. Epub 2023 Aug 25 doi: 10.1016/j.ymgme.2023.107689. PMID: 37660571
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson DR, Viau K, Botto LD, Pasquali M, Longo N
Mol Genet Metab 2020 Jan;129(1):13-19. Epub 2019 Nov 25 doi: 10.1016/j.ymgme.2019.11.006. PMID: 31836396
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
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
van Maldegem BT, Wanders RJ, Wijburg FA
J Inherit Metab Dis 2010 Oct;33(5):507-11. Epub 2010 Apr 29 doi: 10.1007/s10545-010-9080-z. PMID: 20429031Free PMC Article

Recent systematic reviews

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
Economics of tandem mass spectrometry screening of neonatal inherited disorders.
Pandor A, Eastham J, Chilcott J, Paisley S, Beverley C
Int J Technol Assess Health Care 2006 Summer;22(3):321-6. doi: 10.1017/s026646230605121x. PMID: 16984060
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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