Progress in the very long chain acyl - CoA dehydrogenase deficiency

Abstract

Very long chain acyl - CoA dehydrogenase deficiency (VLCADD) is a rare recessively inherited disorder of mitochondrial fatty acid β - oxidation. VLCADD is classfied into three types according the onset age and clinical manifestation: cardiomyopathic phenotype, hepatic phenotype and myopathic phenotype. The cardiomyopathic phenotype is most severe resulting in high mortality. The biochemical hallmark of the disease is elevation of C14:1 -camitine detected by tandem mass spectrometry . Enzyme analysis, molecular genetic analysis and fatty acid oxidation flux assay are used to make further diagnostic evaluation. Treatment regimens include avoidance of fasting, restriction of long - chain fat acid and supplementation of medium - chain triglycerides. Key words: Very long chain acyl-CoA dehydrogenase; Very long chain acyl-CoA dehydrogenase deficiency