U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.
Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y
Pediatr Res 2022 Nov;92(5):1391-1399. Epub 2022 Feb 8 doi: 10.1038/s41390-022-01979-z. PMID: 35136200
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
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
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
Fat oxidation defect presenting with overwhelming ketonuria.
Wraige E, Champion MP, Turner C, Dalton RN
Arch Dis Child 2002 Nov;87(5):428-9; discussion 428-9. doi: 10.1136/adc.87.5.428. PMID: 12390922Free 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

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
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.
Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y
Pediatr Res 2022 Nov;92(5):1391-1399. Epub 2022 Feb 8 doi: 10.1038/s41390-022-01979-z. PMID: 35136200
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 features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF
World J Pediatr 2014 May;10(2):119-25. Epub 2014 May 7 doi: 10.1007/s12519-014-0480-2. PMID: 24801231

Clinical prediction guides

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.
Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y
Pediatr Res 2022 Nov;92(5):1391-1399. Epub 2022 Feb 8 doi: 10.1038/s41390-022-01979-z. PMID: 35136200
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...