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

Wiles, Jason R.; Leslie, Nancy; Knilans, Timothy K.; Akinbi, Henry T.

doi:10.1542/peds.2013-1105

Cited by 10 publications

(7 citation statements)

References 24 publications

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“…The latter mechanism is favoured by the Brugada-type ECG pattern that followed the arrhythmia in one patient (Sanatani et al 2005). Moreover, a prolonged QT c interval has been reported in a neonate with MCAD deficiency (Wiles et al 2014), though the QT c interval was normal in our patient and at least one of the other patients with ventricular tachyarrhythmias (Maclean et al 2005). …”

Section: Discussioncontrasting

confidence: 60%

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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Section: Discussioncontrasting

confidence: 60%

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

et al. 2015

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“…There is also some controversy about the occurrence of these symptoms in OCTN2, CPT1A, and MCAD deficiencies (75), and in some of these cases, arrhythmia may be better explained by other factors. For example, in one MCAD-deficient patient, an acquired prolonged QTc interval was speculated to result from hypocalcemia that accompanied an acute metabolic crisis (82).…”

Section: Common Clinical Symptoms Associated With Fatty Acid β-Oxidation Disordersmentioning

confidence: 99%

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

Houten

Violante

Ventura

et al. 2016

Annu. Rev. Physiol.

596

402

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Mitochondrial fatty acid β-oxidation (FAO) is the major pathway for the degradation of fatty acids and is essential for maintaining energy homeostasis in the human body. Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when glucose is abundantly available, FAO is a main energy source for the heart, skeletal muscle, and kidney. A series of enzymes, transporters, and other facilitating proteins are involved in FAO. Recessively inherited defects are known for most of the genes encoding these proteins. The clinical presentation of these disorders may include hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis and illustrates the importance of FAO during fasting and in hepatic and (cardio)muscular function. In this review, we present the current state of knowledge on the biochemistry and physiological functions of FAO and discuss the pathophysiological processes associated with FAO disorders.

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“…65,[70][71][72][73] Despite the majority of MCADD patients do not present cardiovascular complications, some exceptions have been reported in the literature. [9][10][11][12][13][14][15] Moreover, the MCADD children exhibited a significant increase in the content of several n-6 FA, including C18:3, C20:4, C20:3, C22:4, and C22:5. Omega-6 FA, particularly γ-linolenic acid (C18:3 n-6) and arachidonic acid (C20:4 n-6), are generally associated with proinflammatory action and have been linked to several chronic inflammatory diseases.…”

Section: Discussionmentioning

confidence: 96%

“…6,8 Cardiac arrhythmias have been reported for a few MCADD patients, but the correlation with MCADD is still unclear. [9][10][11][12][13][14][15] Early diagnosis and non-pharmacological therapeutic approaches may prevent to a large extent possible manifestations. Consequently, MCADD is now included in the newborn screening programs of several countries.…”

Section: Introductionmentioning

confidence: 99%

Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency

Guerra,

Ferreira,

Maurício

et al. 2024

J of Inher Metab Disea

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Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most prevalent mitochondrial fatty acid β‐oxidation disorder. In this study, we assessed the variability of the lipid profile in MCADD by analysing plasma samples obtained from 25 children with metabolically controlled MCADD (following a normal diet with frequent feeding and under l‐carnitine supplementation) and 21 paediatric control subjects (CT). Gas chromatography–mass spectrometry was employed for the analysis of esterified fatty acids, while high‐resolution C18‐liquid chromatography‐mass spectrometry was used to analyse lipid species. We identified a total of 251 lipid species belonging to 15 distinct lipid classes. Principal component analysis revealed a clear distinction between the MCADD and CT groups. Univariate analysis demonstrated that 126 lipid species exhibited significant differences between the two groups. The lipid species that displayed the most pronounced variations included triacylglycerols and phosphatidylcholines containing saturated and monounsaturated fatty acids, specifically C14:0 and C16:0, which were found to be more abundant in MCADD. The observed changes in the plasma lipidome of children with non‐decompensated MCADD suggest an underlying alteration in lipid metabolism. Therefore, longitudinal monitoring and further in‐depth investigations are warranted to better understand whether such alterations are specific to MCADD children and their potential long‐term impacts.

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

Cited by 10 publications

References 24 publications

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

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

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency

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