Successful treatment of cardiomyopathy due to very long-chain Acyl-CoA dehydrogenase deficiency: First case report from Oman with literature review

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

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

16 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)354-356
عدد الصفحات3
دوريةOman Medical Journal
مستوى الصوت28
رقم الإصدار5
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2013

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2700???

بصمة

أدرس بدقة موضوعات البحث “Successful treatment of cardiomyopathy due to very long-chain Acyl-CoA dehydrogenase deficiency: First case report from Oman with literature review'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا