Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

ABSTRACT: Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure in the first years of life. Intervention with medication is effective when initiated during the first month of life. This improvement in the treatment of TYR I patients influenced the decision to include TYR I in the US Secretary of the Department of Health and Human Services' (HHS) Recommended Uniform Screening Panel. However, while tyrosine is routinely measured in newborn screening (NBS) by tandem mass spectrometry (MS/MS), elevated tyrosine levels are not specific to TYR I. To improve the specificity of NBS for TYR I, several assays were dev

SUBMITTER: De Jesus VR 

PROVIDER: S-EPMC4533100 | biostudies-literature | 2014 Sep-Oct

REPOSITORIES: biostudies-literature