Successful treatment of cardiomyopathy due to very long-chain acyl-coa dehydrogenase deficiency: first case report from Oman with literature review

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.

Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients

This is a report on the types and patterns of inborn errors of metabolism [IEMs] of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years [1998-2008] at Sultan Qaboos University Hospital [SQUH], the major centre for diagnosis and management of IEM in Oman. Tandem mass spectrometry [MS/MS] was used in the initial screening and diagnosis of IEMs in high risk neonatal and pediatric populations. Out of 1100 patients investigated, 119 were detected positive for IEM by MS/MS spectrometry. Twenty six different metabolic diseases were detected. Patients were categorized into three major groups: a] 54 with amino acids and urea cycle disorders, b] 35 with organic acid disorders, and c] 30 with fatty acid oxidation disorders. The commonest conditions encountered were maple syrup urine disease [MSUD], phenylketonuria [PKU], propionic and isovaleric acidurias, as well as HMG-CoA lyase deficiency and glutaric aciduria type II [GA-II]. Most of these IEMs were over representedin babies born to consanguineous parents, which is consistent with the recessive autosomal inheritance. This study shows that various types of IEMs, reported elsewhere, were also prevalent in Oman, but the pattern of prevalence and distribution is different. The situation, therefore, warrants the development of a nationwide screening and prevention program