Newborn screening for fatty acid oxidation disorders
- Author:
Xin-wen HUANG
1
;
Yu ZHANG
1
Author Information
- Publication Type:Journal Article
- Keywords: fatty acid oxidation disorders; primary carnitine deficiency; fatty acid beta oxidation disorders
- From: Chinese Journal of Practical Pediatrics 2019;34(01):11-14
- CountryChina
- Language:Chinese
- Abstract: ()of recessive hereditary diseases caused by the dysfunction of enzymes required for fatty acids to enter mitochondria or fatty acid beta-oxidation,including carnitine transport disorders and fatty acid beta-oxidation disorders. Clinical symptoms are non-specific,involving multiple organs,such as liver,myocardium,skeletal muscle,brain and kidney. Most FAOD patients diagnosed by newborn screening have no clinical symptoms or mild symptoms through early intervention management,but they are prone to acute onset or even sudden death under stress conditions such as hunger and exercise. Long-term follow-up and management can effectively reduce the mortality and morbidity rate of FAOD.
