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Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MedGen UID:
1842925
•Concept ID:
C5680029
•
Disease or Syndrome
Synonyms: Glutaric aciduria type 2, severe neonatal type; glutaric aciduria type 2, severe neonatal type; MAD deficiency, severe neonatal type; MADD, severe neonatal type; multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
 
Monarch Initiative: MONDO:0018332
Orphanet: ORPHA394529

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Professional guidelines

PubMed

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A
Eur J Pediatr 2019 Mar;178(3):387-394. Epub 2019 Jan 7 doi: 10.1007/s00431-018-03315-2. PMID: 30617651
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N
Hum Mutat 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. PMID: 12815589

Recent clinical studies

Etiology

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.
De Pasquale L, Meo P, Fulia F, Anania A, Meli V, Mondello A, Raimondo MT, Tulino V, Coletta MS, Cacace C
Ital J Pediatr 2022 Sep 5;48(1):164. doi: 10.1186/s13052-022-01356-w. PMID: 36064718Free PMC Article
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM
Curr Mol Med 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. PMID: 31418342
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A
Eur J Pediatr 2019 Mar;178(3):387-394. Epub 2019 Jan 7 doi: 10.1007/s00431-018-03315-2. PMID: 30617651
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M
J Neurol Sci 2018 Jan 15;384:121-125. Epub 2017 Nov 15 doi: 10.1016/j.jns.2017.11.012. PMID: 29249369
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N
Hum Mutat 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. PMID: 12815589

Diagnosis

The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Liu J, Ni W, Deng K, Chen Y, Gu G
Clin Biochem 2024 Mar;125:110735. Epub 2024 Feb 22 doi: 10.1016/j.clinbiochem.2024.110735. PMID: 38401771
A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.
De Pasquale L, Meo P, Fulia F, Anania A, Meli V, Mondello A, Raimondo MT, Tulino V, Coletta MS, Cacace C
Ital J Pediatr 2022 Sep 5;48(1):164. doi: 10.1186/s13052-022-01356-w. PMID: 36064718Free PMC Article
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P
J Neurol 2020 May;267(5):1414-1419. Epub 2020 Jan 29 doi: 10.1007/s00415-020-09729-z. PMID: 31997039
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM
Curr Mol Med 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. PMID: 31418342
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A
Eur J Pediatr 2019 Mar;178(3):387-394. Epub 2019 Jan 7 doi: 10.1007/s00431-018-03315-2. PMID: 30617651

Therapy

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy SP, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier EM, Mühlhausen C, Haege G, Hoffmann GF, Burgard P, Kölker S
Ann Neurol 2010 Nov;68(5):743-52. doi: 10.1002/ana.22095. PMID: 21031586

Prognosis

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM
Curr Mol Med 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. PMID: 31418342
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T
Brain Dev 2019 Aug;41(7):638-642. Epub 2019 Apr 11 doi: 10.1016/j.braindev.2019.04.002. PMID: 30982706
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A
Eur J Pediatr 2019 Mar;178(3):387-394. Epub 2019 Jan 7 doi: 10.1007/s00431-018-03315-2. PMID: 30617651
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M
J Neurol Sci 2018 Jan 15;384:121-125. Epub 2017 Nov 15 doi: 10.1016/j.jns.2017.11.012. PMID: 29249369
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S
J Chromatogr B Analyt Technol Biomed Life Sci 2010 Jun 15;878(20):1673-6. Epub 2010 Mar 20 doi: 10.1016/j.jchromb.2010.03.029. PMID: 20392676

Clinical prediction guides

The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.
Liu J, Ni W, Deng K, Chen Y, Gu G
Clin Biochem 2024 Mar;125:110735. Epub 2024 Feb 22 doi: 10.1016/j.clinbiochem.2024.110735. PMID: 38401771
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A
Eur J Pediatr 2019 Mar;178(3):387-394. Epub 2019 Jan 7 doi: 10.1007/s00431-018-03315-2. PMID: 30617651
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M
J Neurol Sci 2018 Jan 15;384:121-125. Epub 2017 Nov 15 doi: 10.1016/j.jns.2017.11.012. PMID: 29249369
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S
Brain Dev 2017 Jan;39(1):48-57. Epub 2016 Aug 30 doi: 10.1016/j.braindev.2016.08.004. PMID: 27591119
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S
Mol Genet Metab 2008 May;94(1):61-7. Epub 2008 Mar 4 doi: 10.1016/j.ymgme.2008.01.002. PMID: 18289905

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