Newborn screening for Tyr-I: two years' experience of the New York State program

M A Morrissey; S Sunny; A Fahim; C Lubowski; M Caggana

doi:10.1016/j.ymgme.2011.02.017

Newborn screening for Tyr-I: two years' experience of the New York State program

Mol Genet Metab. 2011 Jun;103(2):191-2. doi: 10.1016/j.ymgme.2011.02.017. Epub 2011 Mar 1.

Authors

M A Morrissey¹, S Sunny, A Fahim, C Lubowski, M Caggana

Affiliation

¹ New York State Newborn Screening Laboratory, Wadsworth Center, Empire State Plaza, Albany, NY 12201, USA. mam29@health.state.ny.us

PMID: 21441051
DOI: 10.1016/j.ymgme.2011.02.017

Abstract

In 2 years, the New York newborn screening program has analyzed approximately 500,000 samples for succinylacetone (SUAC), the biomarker for Tyrosinemia, type I. There have been five screen-positive results. Two of these results were considered borderline, and a repeat specimen was requested. In three cases, an immediate referral was made to a specialty care center. Two of those three cases were confirmed for Tyr-I.

MeSH terms

Heptanoates / blood
Humans
Infant, Newborn
Mass Spectrometry / instrumentation
Mass Spectrometry / statistics & numerical data
Neonatal Screening / instrumentation
Neonatal Screening / statistics & numerical data*
New York
Tyrosinemias / blood
Tyrosinemias / diagnosis*

Substances

Heptanoates
succinylacetone