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Multiple acyl-CoA dehydrogenase deficiency, mild type

MedGen UID:
1843108
•Concept ID:
C5680028
•
Disease or Syndrome
Synonyms: Glutaric aciduria type 2, mild type; glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type; multiple acyl-CoA dehydrogenase deficiency, mild type
 
Monarch Initiative: MONDO:0018333
Orphanet: ORPHA394532

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple acyl-CoA dehydrogenase deficiency, mild type

Professional guidelines

PubMed

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W
Clin Chim Acta 2022 Dec 1;537:181-187. Epub 2022 Nov 5 doi: 10.1016/j.cca.2022.10.024. PMID: 36334790

Recent clinical studies

Etiology

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W
Clin Chim Acta 2022 Dec 1;537:181-187. Epub 2022 Nov 5 doi: 10.1016/j.cca.2022.10.024. PMID: 36334790
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
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free 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
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Diagnosis

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W
Clin Chim Acta 2022 Dec 1;537:181-187. Epub 2022 Nov 5 doi: 10.1016/j.cca.2022.10.024. PMID: 36334790
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
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Therapy

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Wen B, Li D, Shan J, Liu S, Li W, Zhao Y, Lin P, Zheng J, Li D, Gong Y, Yan C
Mol Genet Metab 2013 Jun;109(2):154-60. Epub 2013 Apr 11 doi: 10.1016/j.ymgme.2013.04.007. PMID: 23628458
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C
J Neurol Neurosurg Psychiatry 2010 Feb;81(2):231-6. Epub 2009 Sep 15 doi: 10.1136/jnnp.2009.176404. PMID: 19758981
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).
Green A, Preece MA, de Sousa C, Pollitt RJ
J Inherit Metab Dis 1991;14(5):691-7. doi: 10.1007/BF01799937. PMID: 1779616

Prognosis

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W
Clin Chim Acta 2022 Dec 1;537:181-187. Epub 2022 Nov 5 doi: 10.1016/j.cca.2022.10.024. PMID: 36334790
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free 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
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
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Clinical prediction guides

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W
Clin Chim Acta 2022 Dec 1;537:181-187. Epub 2022 Nov 5 doi: 10.1016/j.cca.2022.10.024. PMID: 36334790
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free PMC Article
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
Lucas TG, Henriques BJ, Gomes CM
Biochim Biophys Acta Proteins Proteom 2020 Jun;1868(6):140393. Epub 2020 Feb 19 doi: 10.1016/j.bbapap.2020.140393. PMID: 32087359
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.
Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA
BMC Med Genomics 2020 Jan 29;13(1):12. doi: 10.1186/s12920-020-0665-6. PMID: 31996215Free PMC Article
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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