Newborn screening for fatty acid oxidation disorders / 中国实用儿科杂志

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.