Abstract
We report a baby with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency who presented on day 2 with poor feeding and lethargy. She was floppy with hypoglycaemia (1.8 mmol/l) and hyperammonaemia (182 μmol/l). Despite correction of these and a continuous intravenous infusion of glucose at 4.5–6.2 mg/kg/min, she developed generalised tonic clonic seizures on day 3. She also suffered two episodes of pulseless ventricular tachycardia, from which she was resuscitated successfully. Unfortunately, she died on day 5, following a third episode of pulseless ventricular tachycardia.
Arrhythmias are generally thought to be rarer in MCAD deficiency than in disorders of long-chain fatty acid oxidation. This is, however, the sixth report of ventricular tachyarrhythmias in MCAD deficiency. Five of these involved neonates and it may be that patients with MCAD deficiency are particularly prone to ventricular arrhythmias in the newborn period. Three of the patients (including ours) had normal blood glucose concentrations at the time of the arrhythmias and had been receiving intravenous glucose for many hours. These cases suggest that arrhythmias can be induced by medium-chain acylcarnitines or other metabolites accumulating in MCAD deficiency.
Summary Sentence
Ventricular tachyarrhythmias can occur in MCAD deficiency, especially in neonates.
Competing interests: None declared
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Abbreviations
- APTT:
-
Activated partial thromboplastin time
- ECG:
-
Electrocardiography
- INR:
-
International normalised ratio
- MCAD:
-
Medium-chain acyl-coenzyme A dehydrogenase
- PCR:
-
Polymerase chain reaction
References
Bartelds B, Knoester H, Smid GB et al (2000) Perinatal changes in myocardial metabolism in lambs. Circulation 102:926–931
Bonnet D, Martin D, De Pascale L et al (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248–2253
Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP (2006) The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 148:665–670
Feillet F, Steinmann G, Vianey-Saban C et al (2003) Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. Intensive Care Med 29:1594–1597
Ferro F, Ouille A, Tran TA et al (2012) Long-chain acylcarnitines regulate the hERG channel. PLoS One 7, e41686
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ (2006) The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 8:205–212
Huang JM, Xian H, Bacaner M (1992) Long-chain fatty acids activate calcium channels in ventricular myocytes. Proc Natl Acad Sci U S A 89:6452–6456
Kelly DP, Gordon JI, Alpers R, Strauss AW (1989) The tissue-specific expression and developmental regulation of two nuclear genes encoding rat mitochondrial proteins. Medium chain acyl-CoA dehydrogenase and mitochondrial malate dehydrogenase. J Biol Chem 264:18921–18925
Maclean K, Rasiah VS, Kirk EP, Carpenter K, Cooper S, Lui K, Oei J (2005) Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Acta Paediatr 94:114–116
Mayell SJ, Edwards L, Reynolds FE, Chakrapani AB (2007) Late presentation of medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 30:104
Olpin SE, Manning NJ, Pollitt RJ, Bonham JR, Downing M, Clark S (1999) The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts. Adv Exp Med Biol 466:321–325
Rice G, Brazelton T 3rd, Maginot K, Srinivasan S, Hollman G, Wolff JA (2007) Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. N Engl J Med 357:1781
Sanatani S, Mahkseed N, Vallance H, Brugada R (2005) The Brugada ECG pattern in a neonate. J Cardiovasc Electrophysiol 16:342–344
Searle C, Andresen BS, Wraith E et al (2013) A large intragenic deletion in the ACADM gene can cause MCAD deficiency but is not detected on routine sequencing. JIMD Rep 11:13–16
Ventura FV, Costa CG, Struys EA et al (1999) Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281:1–17
Wanders RJ, Ruiter JP, Ijlst L, Waterham HR, Houten SM (2010) The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis 33:479–494
Wilcken B (2010) Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 33:501–506
Wilcken B, Haas M, Joy P et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37–42
Wiles JR, Leslie N, Knilans TK, Akinbi H (2014) Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 133:e1781–e1786
Wu J, Corr PB (1992) Influence of long-chain acylcarnitines on voltage-dependent calcium current in adult ventricular myocytes. Am J Physiol 263:H410–H417
Wu J, Corr PB (1995) Palmitoylcarnitine increases [Na+]i and initiates transient inward current in adult ventricular myocytes. Am J Physiol 268:H2405–H2417
Yusuf K, Jirapradittha J, Amin HJ, Yu W, Hasan SU (2010) Neonatal ventricular tachyarrhythmias in medium chain acyl-CoA dehydrogenase deficiency. Neonatology 98:260–264
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Bridget Wilcken
Appendices
Contributions
Drs. Bala and Chetcuti looked after the patient and Dr. Bala drafted the manuscript. Dr. Morris advised on investigation of the patient and revised the manuscript. Drs. Ferdinandusse and Olpin investigated the patient and reviewed the manuscript.
Compliance with Ethics Guidelines
Conflict of Interest
Pronab Bala, Sacha Ferdinandusse, Simon Olpin, Philip Chetcuti and Andrew Morris all declare that they have no conflict of interest.
Consent
The parents of the patient reported have given written informed consent for publication.
Rights and permissions
Copyright information
© 2015 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Bala, P., Ferdinandusse, S., Olpin, S.E., Chetcuti, P., Morris, A.A.M. (2015). Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 27. JIMD Reports, vol 27. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_463
Download citation
DOI: https://doi.org/10.1007/8904_2015_463
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-50408-6
Online ISBN: 978-3-662-50409-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)