U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Myopathy Secondary to Fatty Acid Oxidation Disorder

MedGen UID:
1712940
•Concept ID:
C5238802
•
Disease or Syndrome

Definition

A myopathy that was caused by a primary disorder of fatty acid oxidation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyopathy Secondary to Fatty Acid Oxidation Disorder

Professional guidelines

PubMed

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Lotz-Havla AS, Röschinger W, Schiergens K, Singer K, Karall D, Konstantopoulou V, Wortmann SB, Maier EM
Orphanet J Rare Dis 2018 Jul 20;13(1):122. doi: 10.1186/s13023-018-0875-6. PMID: 30029694Free PMC Article
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. PMID: 22989098Free PMC Article

Recent clinical studies

Etiology

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
Disorders of carnitine biosynthesis and transport.
El-Hattab AW, Scaglia F
Mol Genet Metab 2015 Nov;116(3):107-12. Epub 2015 Sep 10 doi: 10.1016/j.ymgme.2015.09.004. PMID: 26385306
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
Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G
J Inherit Metab Dis 2014 May;37(3):405-13. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9666-3. PMID: 24305961
Defects of fatty-acid oxidation in muscle.
Angelini C
Baillieres Clin Endocrinol Metab 1990 Sep;4(3):561-82. doi: 10.1016/s0950-351x(05)80068-0. PMID: 2268228

Diagnosis

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U
J Inherit Metab Dis 2021 Jul;44(4):893-902. Epub 2021 Mar 10 doi: 10.1002/jimd.12372. PMID: 33638202
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free 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
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
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590

Therapy

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.
Storgaard JH, Løkken N, Madsen KL, Voermans NC, Laforêt P, Nadaj-Pakleza A, Tard C, van Hall G, Vissing J, Ørngreen MC
J Inherit Metab Dis 2022 May;45(3):517-528. Epub 2022 Feb 4 doi: 10.1002/jimd.12479. PMID: 35066899
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J
J Inherit Metab Dis 2017 Nov;40(6):831-843. Epub 2017 Sep 4 doi: 10.1007/s10545-017-0085-8. PMID: 28871440Free 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
Carnitine metabolism and deficit--when supplementation is necessary?
Evangeliou A, Vlassopoulos D
Curr Pharm Biotechnol 2003 Jun;4(3):211-9. doi: 10.2174/1389201033489829. PMID: 12769764
Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy.
Tein I
J Child Neurol 2002 Dec;17 Suppl 3:3S57-82; discussion 3S82-3. PMID: 12597056

Prognosis

Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G
J Inherit Metab Dis 2014 May;37(3):405-13. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9666-3. PMID: 24305961
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. PMID: 22989098Free PMC Article
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I
Muscle Nerve 2004 Jan;29(1):66-72. doi: 10.1002/mus.10500. PMID: 14694500
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A
Pediatrics 2001 Jul;108(1):E19. doi: 10.1542/peds.108.1.e19. PMID: 11433098
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
Sewell AC, Bender SW, Wirth S, Münterfering H, Ijlist L, Wanders RJ
Eur J Pediatr 1994 Oct;153(10):745-50. doi: 10.1007/BF01954492. PMID: 7813533

Clinical prediction guides

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Grünert SC, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U
J Inherit Metab Dis 2021 Jul;44(4):893-902. Epub 2021 Mar 10 doi: 10.1002/jimd.12372. PMID: 33638202
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
Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G
J Inherit Metab Dis 2014 May;37(3):405-13. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9666-3. PMID: 24305961
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Laforêt P, Vianey-Saban C
Neuromuscul Disord 2010 Nov;20(11):693-700. Epub 2010 Aug 5 doi: 10.1016/j.nmd.2010.06.018. PMID: 20691590
Carnitine metabolism and deficit--when supplementation is necessary?
Evangeliou A, Vlassopoulos D
Curr Pharm Biotechnol 2003 Jun;4(3):211-9. doi: 10.2174/1389201033489829. PMID: 12769764

Supplemental Content

Table of contents

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

    Related information

    • 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...