Lethal Very Long-Chain Acyl-Coa Dehydrogenase Deficiency with a Novel Mutation

  • Çigdem Seher Kasapkara
  • Jean_Marc Nuoffer
  • Gökhan Baysoy
  • Bedri Aldudak
  • Mehmet Nuri Özbek
  • Meltem Akcaboy
  • Carlo. R. Largiadèr
Keywords: Very long chain acyl-CoA dehydrogenase deficiency, children, hypoglycemia, cardiomyopathy

Abstract

Very long chain acyl-CoA dehydrogenase deficiency is an autosomal recessive genetic disorder in which the first step in the mitochondrial β-oxidation of fatty acids for 14-20 carbons is defective. Clinical presentation is heterogeneous ranging from the severe neonatal form presenting with hypo-ketotic hypoglycemia, liver dysfunction and rapidly fatal cardiomyopathy with episodes of hypo-ketotic hypoglycemia in infants. Herein we report a patient with novel homozygous missense mutation c.1391C>A in exon 14 with a severe neonatal onset type who presented with hypoketotic hypoglycemia, cardiomyopathy and hepatomegaly.

References

Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-Co Adehydrogenase deficiency. Mol Genet Metab. 2013;109(1):21-7.

Spiekerkoetter U, Mueller M, Sturm M, Hofmann M, Schneider DT. Lethal Undiagnosed Very Long-ChainAcyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening. JIMD Rep. 2012;6:113-5.

Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY. Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newbornscreening. Diagn Mol Pathol. 2012;21(3):184-7.

Pervaiz MA, Kendal F, Hegde M, Singh RH. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet. 2011;17(1):29-32.

Eminoglu TF, Tumer L, Okur I, Ezgu FS, Biberoglu G, Hasanoglu A. Verylong-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide. Forensic Sci Int. 2011;210(1-3):e1-3.

McGoey RR, Marble M. Positive newborn screen in a normal infant of a mother with asymptomatic verylong-chainAcyl-CoA dehydrogenase deficiency. J Pediatr. 2011;158(6):1031-2.

Vellekoop P, Diekman EF, vanTuijl I, de Vries MM, vanHasselt PM, VisserG. Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2011;103(1):96-7.

Mendez-Figueroa H, Shchelochkov OA, Shaibani A, Aagaard-Tillery K, ShinawiMS. Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol. 2010;30(8):558-62.

Coughlin CR 2nd, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoAdehydrogenase deficiency. J Inherit Metab Dis. 2010;33 Suppl 3:S129-31. Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M. Verylong-chain acyl-CoA dehydrogenas edeficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010;156(3):492-4.

Aliefendioğlu D, Dursun A, Coşkun T, Akçören Z, Wanders RJ, Waterham HR. A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. Eur J Pediatr. 2007;166(10):1077-80.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT,Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, FernandezRuano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C. FourYears' Experience in the Diagnosis of Very Long-ChainAcyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD Rep. 2018;39:63-74.

Katz S, Landau Y, Pode-Shakked B, Pessach IM, Rubinshtein M, Anikster Y, Salem Y, Paret G. Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. Mol Genet Metab Rep. 2016;10:5-7.

Published
2019-06-21