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Sharef SW, Al-Senaidi K, Joshi SN. Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review. Oman Med J. 2013;28(5):354-6doi: 10.5001/omj.2013.101.
Sharef, S. W., Al-Senaidi, K., & Joshi, S. N. (2013). Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review. Oman medical journal, 28(5), 354-6. https://doi.org/10.5001/omj.2013.101
Sharef, Sharef Waadallah, et al. "Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review." Oman medical journal vol. 28,5 (2013): 354-6. doi: https://doi.org/10.5001/omj.2013.101
Sharef SW, Al-Senaidi K, Joshi SN. Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review. Oman Med J. 2013 Sep;28(5):354-6. doi: 10.5001/omj.2013.101. PMID: 24044064; PMCID: PMC3769119.
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Oman Med J. 2013 Sep;28(5):354-6. doi: 10.5001/omj.2013.101.

Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.

Oman medical journal

Sharef Waadallah Sharef, Khalfan Al-Senaidi, Surendra Nath Joshi

Affiliations

  1. Department of Child Health, Sultan Qaboos University Hospital, P.O. Box 38, P.C 123, Al-Khodh, Muscat, Sultanate of Oman.

PMID: 24044064 PMCID: PMC3769119 DOI: 10.5001/omj.2013.101

Abstract

Very long-chain acyl-CoA dehydrogenase deficiency (MIM 201475) is a severe defect of mitochondrial energy production from oxidation of very long-chain fatty acids. This inherited metabolic disorder often presents in early neonatal period with episodes of symptomatic hypoglycemia usually responding well to intravenous glucose infusion. These babies are often discharged without establishment of diagnosis but return by 2-5 months of age with severe and progressive cardiac failure due to hypertrophic cardiomyopathy with or without hepatic failure and steatosis. An early diagnosis and treatment with high concentration medium chain triglycerides based feeding formula can be life saving in such patients. Here, we report the first diagnosed and treated case of Very long-chain acyl-CoA dehydrogenase deficiency in Oman. This infant developed heart failure with left ventricular dilation, hypertrophy and pericardial effusion at the age of 7 weeks. Prompt diagnosis and subsequent intervention with medium chain triglycerides-based formula resulted in a reversal of severe clinical symptoms with significant improvement of cardiac status. This treatment also ensured normal growth and neurodevelopment. It is stressed that the disease must be recognized by the pediatricians and cardiologists since the disease can be identified by Tandem Mass Spectrometry; therefore, it should be considered to be included in expanded newborn screening program, allowing early diagnosis and intervention in order to ensure better outcome and prevent complications.

Keywords: Cardiomyopathy; Fatty acid oxidation defect; Medium Chain Triglycerides (MCT) based formula; Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

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