TY - JOUR
T1 - Successful treatment of cardiomyopathy due to very long-chain Acyl-CoA dehydrogenase deficiency
T2 - First case report from Oman with literature review
AU - Sharef, Sharef Waadallah
AU - Al-Senaidi, Khalfan
AU - Joshi, Surendra Nath
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - Cardiomyopathy
KW - Fatty acid oxidation defect
KW - Medium chain triglycerides (MCT) based formula
KW - Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
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U2 - 10.5001/omj.2013.101
DO - 10.5001/omj.2013.101
M3 - Article
C2 - 24044064
AN - SCOPUS:84884195237
SN - 1999-768X
VL - 28
SP - 354
EP - 356
JO - Oman Medical Journal
JF - Oman Medical Journal
IS - 5
ER -