Medium Chain Acyl–Coenzyme A Dehydrogenase Deficiency in a Neonate

Rice, Gregory M.; Brazelton, T. Berry; Maginot, Kathleen R.; Srinivasan, Shardha; Hollman, Gregory A.; Wolff, Jon A.

doi:10.1056/nejmc071277

Cited by 9 publications

(10 citation statements)

References 4 publications

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“…Once the diagnosis is made, mortality is uncommon as the disorder is amenable to treatment with frequent feedings or, if necessary, intravenous glucose and carnitine supplements [8] . Our patient, similar to the one reported by Rice et al [12] , presented before neonatal screening results were available. Furthermore, the presence of ventricular arrhythmias was atypical.…”

Section: Discussionsupporting

confidence: 87%

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Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency

et al. 2010

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We describe an unusually severe case of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a term female neonate, who presented at 12 h of age with lethargy, poor feeding, hypoglycemia and ventricular tachyarrhythmias. While arrhythmias are common in other disorders of fatty acid beta-oxidation, ventricular tachyarrhythmias have rarely been reported with MCAD deficiency in childhood. Since the results of newborn metabolic screening are usually not available within the first 3 days of life, our case highlights the need for health care professionals to be made aware of this early and uncommon but potentially fatal presentation of MCAD deficiency.

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Section: Discussionsupporting

confidence: 87%

“…Rice et al [12] described a 3-day-old neonate with MCAD deficiency, who presented with lethargy, poor feeding, hypoglycemia and ventricular tachyarrhythmias refractory to multiple antiarrhythmic agents. This neonate survived with the use of extracorporeal life support and carnitine supplements.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency

et al. 2010

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“…Although various cardiac arrhythmias and cardiomyopathy have been reported in MCAD deficiency, to our knowledge the association of a prolonged QTc interval has not been described. [3][4][5][6][7] QTc interval prolongation may be secondary to congenital or acquired abnormalities and is significant in that it may progress into life-threatening cardiac arrhythmia.…”

Section: Discussionmentioning

confidence: 99%

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Wiles

Leslie²,

Knilans

et al. 2014

Pediatrics

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Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated with electrocardiographic abnormality. We review the clinical presentation and diagnosis of MCAD deficiency in neonates.

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“…The other four cases were neonates, presenting with poor feeding and lethargy at 1-3 days of age. Two cases were hypoglycaemic and developed ventricular tachyarrhythmias from which they were successfully resuscitated (Rice et al 2007;Sanatani et al 2005). The third case had a metabolic acidosis but a normal blood glucose concentration (Maclean et al 2005).…”

Section: Discussionmentioning

confidence: 99%

Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

et al. 2015

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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 mmol/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.

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Medium Chain Acyl–Coenzyme A Dehydrogenase Deficiency in a Neonate

Cited by 9 publications

References 4 publications

Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency

Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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