Pre-symptomatically detected novel variant of CPT1A deficiency: a case report

CPT1A enzyme deficiency is a rare metabolic disorder of mitochondrial fatty acid oxidation, with late manifestations during infancy or childhood, including hypoketotic hypoglycemia and hepatic encephalopathy. Newborn screening in several countries include pre-symptomatic detection deficiency, which helps early diagnosis better management the disorder. We report here case detected pre-symptomatically newborn screening, was confirmed by exome sequencing to be novel c. 232G>A variant exon 3 gene. This uncertain significance has not been reported literature.