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Fatty acid oxidation defect

MedGen UID:
1786147
•Concept ID:
C1456270
•
Disease or Syndrome
Synonyms: FAOD - fatty acid oxidation defect; Fatty acid oxidation disorder
SNOMED CT: Fatty acid oxidation defect (1156591005); Fatty acid oxidation disorder (1156591005); FAOD - fatty acid oxidation defect (1156591005)

Professional guidelines

PubMed

Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Van den Bulcke T, Vanden Broucke P, Van Hoof V, Wouters K, Vanden Broucke S, Smits G, Smits E, Proesmans S, Van Genechten T, Eyskens F
J Biomed Inform 2011 Apr;44(2):319-25. Epub 2010 Dec 15 doi: 10.1016/j.jbi.2010.12.001. PMID: 21167313
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S263-7. Epub 2010 Jun 22 doi: 10.1007/s10545-010-9143-1. PMID: 20567907
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL
Mol Genet Metab 2010 May;100(1):46-50. Epub 2009 Dec 28 doi: 10.1016/j.ymgme.2009.12.015. PMID: 20074989

Recent clinical studies

Etiology

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G
Ital J Pediatr 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. PMID: 38616285Free PMC Article
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S263-7. Epub 2010 Jun 22 doi: 10.1007/s10545-010-9143-1. PMID: 20567907
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
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE
Obstet Gynecol 2006 Jan;107(1):115-20. doi: 10.1097/01.AOG.0000191297.47183.bd. PMID: 16394048
Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.
Van Maldergem L, Espeel M, Wanders RJ, Roels F, Gerard P, Scalais E, Mannaerts GP, Casteels M, Gillerot Y
Neuromuscul Disord 1992;2(3):217-24. doi: 10.1016/0960-8966(92)90009-u. PMID: 1483048

Diagnosis

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G
Ital J Pediatr 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. PMID: 38616285Free PMC Article
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL
Mol Genet Metab 2010 May;100(1):46-50. Epub 2009 Dec 28 doi: 10.1016/j.ymgme.2009.12.015. PMID: 20074989
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
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE
Obstet Gynecol 2006 Jan;107(1):115-20. doi: 10.1097/01.AOG.0000191297.47183.bd. PMID: 16394048
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.
Pourfarzam M, Schaefer J, Turnbull DM, Bartlett K
Clin Chem 1994 Dec;40(12):2267-75. PMID: 7988014

Therapy

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW
Pediatr Res 2005 Jun;57(6):760-4. Epub 2005 Mar 17 doi: 10.1203/01.PDR.0000157915.26049.47. PMID: 15774826
Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males.
Hollander AS, Olney RC, Blackett PR, Marshall BA
Pediatrics 2003 Jun;111(6 Pt 1):1447-52. doi: 10.1542/peds.111.6.1447. PMID: 12777570
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management.
Sluysmans T, Tuerlinckx D, Hubinont C, Verellen-Dumoulin C, Brivet M, Vianey-Saban C
J Pediatr 1997 Sep;131(3):444-6. doi: 10.1016/s0022-3476(97)80073-x. PMID: 9329424
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
Christodoulou J, Hoare J, Hammond J, Ip WC, Wilcken B
J Pediatr 1995 Jan;126(1):65-8. doi: 10.1016/s0022-3476(95)70504-x. PMID: 7815228

Prognosis

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G
Ital J Pediatr 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. PMID: 38616285Free PMC Article
Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.
Tan YY, Fong WYN, Chan CJ, Chandran S
BMJ Case Rep 2022 Dec 19;15(12) doi: 10.1136/bcr-2022-251321. PMID: 36535739Free PMC Article
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Van den Bulcke T, Vanden Broucke P, Van Hoof V, Wouters K, Vanden Broucke S, Smits G, Smits E, Proesmans S, Van Genechten T, Eyskens F
J Biomed Inform 2011 Apr;44(2):319-25. Epub 2010 Dec 15 doi: 10.1016/j.jbi.2010.12.001. PMID: 21167313
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE
Obstet Gynecol 2006 Jan;107(1):115-20. doi: 10.1097/01.AOG.0000191297.47183.bd. PMID: 16394048
Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males.
Hollander AS, Olney RC, Blackett PR, Marshall BA
Pediatrics 2003 Jun;111(6 Pt 1):1447-52. doi: 10.1542/peds.111.6.1447. PMID: 12777570

Clinical prediction guides

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G
Ital J Pediatr 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. PMID: 38616285Free PMC Article
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Van den Bulcke T, Vanden Broucke P, Van Hoof V, Wouters K, Vanden Broucke S, Smits G, Smits E, Proesmans S, Van Genechten T, Eyskens F
J Biomed Inform 2011 Apr;44(2):319-25. Epub 2010 Dec 15 doi: 10.1016/j.jbi.2010.12.001. PMID: 21167313
Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.
Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR
Hum Gene Ther 2006 Jan;17(1):71-80. doi: 10.1089/hum.2006.17.71. PMID: 16409126
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW
Pediatr Res 2005 Jun;57(6):760-4. Epub 2005 Mar 17 doi: 10.1203/01.PDR.0000157915.26049.47. PMID: 15774826
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.
Pourfarzam M, Schaefer J, Turnbull DM, Bartlett K
Clin Chem 1994 Dec;40(12):2267-75. PMID: 7988014

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