Analysis of clinical and genetic results in one case of very long chain acyl-CoA dehydrogenase deficiency
10.3760/cma.j.issn.1000-6699.2016.04.012
- VernacularTitle:极长链酰基辅酶 A脱氢酶缺乏症一例临床及基因检测结果分析
- Author:
Yingxian ZHANG
;
Yan CUI
;
Yongxing CHEN
;
Haiyan WEI
- Publication Type:Journal Article
- Keywords:
Very long chain acyl-CoA dehydrogenase;
Very long chain acyl-CoA dehydrogenase deficiency;
Muscle disease;
Tandem mass spectrometry;
Gene diagnosis
- From:
Chinese Journal of Endocrinology and Metabolism
2016;32(4):309-311
- CountryChina
- Language:Chinese
-
Abstract:
Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.
