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Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Orphanet journal of rare diseases | 2017

Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty regarding the test accuracy of the current method: succinylacetone measurement in dried blood spots using tandem mass spectrometry.

Pubmed ID: 28274233 RIS Download

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Associated grants

  • Agency: Department of Health, United Kingdom
    Id: CDF-2016-09-018
  • Agency: Department of Health, United Kingdom
    Id: WMCLAHRC-2014-1

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