Paying attention to screening,diagnosis and treatment of fatty acid oxidation disorders
- Author:
Lian-shu HAN
1
Author Information
- Publication Type:Journal Article
- Keywords: fatty acid oxidation disorders; inherited metabolic diseases; tandem mass spectrometry
- From: Chinese Journal of Practical Pediatrics 2019;34(01):6-10
- CountryChina
- Language:Chinese
- Abstract: Fatty acid oxidation disorders(FAOD)include more than 10 kinds of diseases,they all belong to autosomal recessive diseases and are common inherited metabolic diseases. Onset age of the patients with FAOD are from newborn to adult. The clinical manifestations were nonspecific,mainly manifested as liver disease,cardiomyopathy and muscle diseases. Detection of free carnitine and acylcarnitines in blood by tandem mass spectrometry and detection of gene mutations are important methods for diagnosis of such diseases. Tandem mass screening for neonatal screening is helpful for early diagnosis and early treatment of FAOD. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency can be treated by specific therapeutic drugs with good effect. There are no specific drugs for other diseases,which need symptomatic treatment.
