Use

This test is used as a second-tier newborn screening for tyrosinemia type 1 (HT-1), particularly when there's a nonspecific elevation of tyrosine. HT-1 is an autosomal recessive condition that primarily affects the liver, kidneys, and peripheral nerves. It can cause severe liver disease, renal tubular dysfunction, and neurologic crises. Succinylacetone is a specific marker for HT-1 and is not consistently measured by newborn screening programs. This test assesses succinylacetone in newborn blood spots by tandem mass spectrometry and can assist in diagnosing HT-1 when combined with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of FAH.