Succinylacetone

Succinylacetone is a toxic compound produced in tyrosinemia type 1, a rare genetic metabolic disorder affecting amino acid processing. This newborn screening test uses bloodspot analysis to measure succinylacetone levels, as elevated levels indicate impaired liver enzyme function. Tyrosinemia type 1 causes progressive liver disease, kidney dysfunction, neurological problems, and increased cancer risk without treatment. Early detection through newborn screening allows prompt initiation of dietary restriction and medications to prevent liver failure, kidney damage, and other serious complications.