Sharef Sharef Waadallah, Al-Senaidi Khalfan, Joshi Surendra Nath
Department of Child Health, Sultan Qaboos University Hospital, P.O. Box 38, P.C 123, Al-Khodh, Muscat, Sultanate of Oman.
Oman Med J. 2013 Sep;28(5):354-6. doi: 10.5001/omj.2013.101.
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.
极长链酰基辅酶A脱氢酶缺乏症（MIM 201475）是一种由于极长链脂肪酸氧化导致线粒体能量产生的严重缺陷。这种遗传性代谢紊乱通常在新生儿早期出现，伴有症状性低血糖发作，静脉输注葡萄糖通常能有效缓解。这些婴儿往往在未确诊的情况下出院，但在2至5个月大时因肥厚型心肌病伴或不伴有肝衰竭和脂肪变性而出现严重且进行性的心力衰竭后返回。对于此类患者，早期诊断并使用基于高浓度中链甘油三酯的喂养配方进行治疗可能挽救生命。在此，我们报告阿曼首例确诊并接受治疗的极长链酰基辅酶A脱氢酶缺乏症病例。这名婴儿在7周龄时出现心力衰竭，伴有左心室扩张、肥厚和心包积液。及时诊断并随后采用基于中链甘油三酯的配方进行干预，使严重的临床症状得到逆转，心脏状况显著改善。这种治疗还确保了正常生长和神经发育。强调儿科医生和心脏病专家必须认识到这种疾病，因为该疾病可通过串联质谱法进行识别；因此，应考虑将其纳入扩大的新生儿筛查项目，以便早期诊断和干预，从而确保更好的结果并预防并发症。
