Very long chain acyl-CoA dehydrogenase deficiency：a case report with literature review
10.3969/j.issn.1000-3606.2013.11.020
- VernacularTitle:极长链酰基辅酶A脱氢酶缺乏症1例报告并文献复习
- Author:
Haiyan FU
;
Xiaoming WANG
;
Ruiqin ZHAO
;
Suxia XIN
- Publication Type:Journal Article
- Keywords:
very long chain acyl-CoA dehydrogenase;
diagnosis;
infant
- From:
Journal of Clinical Pediatrics
2013;(11):1078-1081
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features of very long chain acyl-CoA dehydrogenase deifciency (VLCADD). Methods The clinical manifestation and the biochemical data of one baby girl with VLCADD were summarized and related literatures were reviewed. Results Female patient, aged 7 months, presented with recurrent vomit, haematemesis, stare, nodal tachycardia, hypoglycemia, abnormal liver function and myocardial enzyme. She died after one month due to frequent relapse together with withdrawing treatment. Conclusion VLCADD as a rare disease that cause sudden unexpected death in infant, the early diagnosis and treatment are important to patients.
