Progress in the very long chain acyl - CoA dehydrogenase deficiency
10.3760/cma.j.issn.1673-4408.2011.05.003
- VernacularTitle:极长链酰基辅酶A脱氢酶缺乏症研究进展
- Author:
Ruinan ZHANG
- Publication Type:Journal Article
- Keywords:
Very long chain acyl-CoA dehydrogenase;
Very long chain acyl-CoA dehydrogenase deficiency
- From:
International Journal of Pediatrics
2011;38(5):429-433
- CountryChina
- Language:Chinese
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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.
