Fatty acid oxidation in Kuwait: a case series and review

ABSTRACT

Fatty acid oxidation disorders [FAOD] are a group of inherited Inborn Error of Metabolism [IEM] in which specific enzyme defect in fatty acid metabolic pathway will lead to accumulation of fatty acids and decrease in cell energy metabolism. This paper will highlight the clues that can be obtained from history, clinical examination, and simple bedside tests characteristic for fatty acid oxidation disorders [fig 1] in order to raise the index of suspicion of these disorders among all pediatricians working in a society with high consanguineous marriage rate, such as Kuwait. The records of 15 patients diagnosed as FAOD were retrospectively reviewed. The final diagnosis was very long chain acyl-CoA dehydrogenase deficiency [VLCAD] in ten patients and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHAD] in five patients. Eighty percent had a positive family history of either a previous sudden unexplained infant death or a similar diagnosis in a first-degree relative. History of consanguinity was positive in eleven patients [73%]. Diagnosis of FAOD can be difficult because patients tend to develop symptoms only during prolonged fasting and intercurrent acute illnesses. In our series seven patients presented with acute illness and four patients presented with respiratory distress, four had heart failure due to cardiomyopathy and another two presented with convulsions due to severe metabolic acidosis. Physical findings are usually non-specific, eight [53%] had hepatomegaly and four [27%] had marked hypotonia. Our group of 15 cases accumulated within 3 years is inordinately large and suggest that Kuwait provides a promising venue in which to study the biochemical and molecular genetics of FAOD