Progress in the very long chain acyl - CoA dehydrogenase deficiency / 国际儿科学杂志

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 C141 -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.