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Long chain acyl-CoA dehydrogenase deficiency

MedGen UID:
65087
•Concept ID:
C0220711
•
Disease or Syndrome
Synonym: LCAD deficiency
SNOMED CT: Long chain acyl-coenzyme A dehydrogenase deficiency (237996001); Long chain acyl-CoA dehydrogenase deficiency (237996001); LCAD - Long chain acyl-CoA dehydrogenase deficiency (237996001)
 
Gene (location): ACADL (2q34)
 
Monarch Initiative: MONDO:0020531

Definition

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLong chain acyl-CoA dehydrogenase deficiency
Follow this link to review classifications for Long chain acyl-CoA dehydrogenase deficiency in Orphanet.

Professional guidelines

PubMed

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. PMID: 36161784Free 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
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 clinical studies

Etiology

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
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
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Alhashem A, Mohamed S, Abdelraheem M, AlGufaydi B, Al-Aqeel A
Saudi Med J 2020 Jun;41(6):590-596. doi: 10.15537/smj.2020.6.25131. PMID: 32518924Free PMC Article
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N
Mol Genet Metab 2019 May;127(1):64-73. Epub 2019 Apr 16 doi: 10.1016/j.ymgme.2019.04.001. PMID: 31031081
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

Diagnosis

Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. PMID: 36161784Free 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
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T
J Hum Genet 2019 Feb;64(2):73-85. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0527-7. PMID: 30401918
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
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

Therapy

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
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Alhashem A, Mohamed S, Abdelraheem M, AlGufaydi B, Al-Aqeel A
Saudi Med J 2020 Jun;41(6):590-596. doi: 10.15537/smj.2020.6.25131. PMID: 32518924Free PMC Article
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL
J Inherit Metab Dis 2020 Jul;43(4):787-799. Epub 2020 Feb 5 doi: 10.1002/jimd.12217. PMID: 31955429Free PMC Article
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T
J Hum Genet 2019 Feb;64(2):73-85. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0527-7. PMID: 30401918
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

Prognosis

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
FASEB J 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R. PMID: 38372965
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Rouyer A, Tard C, Dessein AF, Spinazzi M, Bédat-Millet AL, Dimitri-Boulos D, Nadaj-Pakleza A, Chanson JB, Nicolas G, Douillard C, Laforêt P
Eur J Neurol 2024 Feb;31(2):e16138. Epub 2023 Nov 28 doi: 10.1111/ene.16138. PMID: 38015438Free PMC Article
Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. PMID: 36161784Free PMC Article
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T
J Hum Genet 2019 Feb;64(2):73-85. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0527-7. PMID: 30401918
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

Clinical prediction guides

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM
FASEB J 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R. PMID: 38372965
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Alhashem A, Mohamed S, Abdelraheem M, AlGufaydi B, Al-Aqeel A
Saudi Med J 2020 Jun;41(6):590-596. doi: 10.15537/smj.2020.6.25131. PMID: 32518924Free PMC Article
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N
Mol Genet Metab 2019 May;127(1):64-73. Epub 2019 Apr 16 doi: 10.1016/j.ymgme.2019.04.001. PMID: 31031081
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T
J Hum Genet 2019 Feb;64(2):73-85. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0527-7. PMID: 30401918
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

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