New Diagnostic for Metabolic Disease in Neonates
Tyrosinemia Type 1, like some other inherited amino acidurias, is a rare disease in most populations, but is treatable if found early enough and can be cured by liver transplant. Without early detection, severe retardation and death can follow. Recently, PerkinElmer and the Meyer Childrens’ Hospital in Florence, Italy developed a new biomarker test that does what other assays do-reveal an elevated level of succinylacetone (a metabolite resulting from a primary enzyme defect)-but this one produces results within 48 hours from a single drop of blood. Tyrosinemia Type 1 occurs in about 1:100,000-120,000 live births worldwide, but among French Canadians in Quebec Province, the carrier incidence is 1:20 which results in the world highest burden of this disease. MORE