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- Title
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
- Authors
Stinton, Chris; Geppert, Julia; Freeman, Karoline; Clarke, Aileen; Johnson, Samantha; Fraser, Hannah; Sutcliffe, Paul; Taylor-Phillips, Sian
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>We conducted a systematic review of literature published up to January 2016. Two reviewers independently assessed titles, abstracts, full texts, and conducted quality appraisals. A single reviewer extracted data, which was checked by a second reviewer.<bold>Results: </bold>Ten studies provided test accuracy data: five studies reporting screening experiences and five case-control studies. Sensitivity (29 cases in total) and specificity (34,403 controls in total) were 100% in the case-control studies, but could not be calculated in the studies reporting screening experiences due to a lack of follow-up of screen-negative babies. Positive predictive values in the screening experience studies ranged from 66.7% (2 true positive cases, 1 false positive case from ~500,000 people screened) to 100% (8 true positive cases from 856,671 people screened); negative predictive values could not be calculated. Positive and negative predictive values cannot be calculated from case-control studies.<bold>Conclusions: </bold>Screening for Tyrosinemia type 1 using tandem mass spectrometry measurement of succinylacetone from dried blood spots appears to be promising. Confirmation of test accuracy data should be obtained from studies that include a two-year follow-up of individuals who screen negative.
- Subjects
NEWBORN screening; TYROSINEMIA; ACCURACY of information; SYSTEMATIC reviews; INBORN errors of metabolism; TANDEM mass spectrometry; INBORN errors of metabolism diagnosis; AMINO acid metabolism disorders; FATTY acids; MASS spectrometry; RESEARCH funding; DIAGNOSIS
- Publication
Orphanet Journal of Rare Diseases, 2017, Vol 12, p1
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/s13023-017-0599-z