Stinton, Chris, Geppert, Julia, Freeman, Karoline, Clarke, Aileen, Johnson, Samantha Ann, Fraser, Hannah, Sutcliffe, P. (Paul) and Taylor-Phillips, Sian (2017) Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy. Orphanet Journal of Rare Diseases, 12 . 48. ISSN 1750-1172.

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Abstract

Background: 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.
Methods: 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.
Results: 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.
Conclusions: 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.

Item Type:	Journal Article
Subjects:	R Medicine > RB Pathology
Divisions:	Administration > Information and Digital Group > Library Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Genetic disorders, Medical screening, Newborn infants, Systematic reviews (Medical research)
Journal or Publication Title:	Orphanet Journal of Rare Diseases
Publisher:	BioMed Central Ltd.
ISSN:	1750-1172
Official Date:	9 March 2017
Dates:	Date Event 9 March 2017 Published 23 February 2017 Accepted
Volume:	12
Article Number:	48
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Open Access (Creative Commons)
Date of first compliant deposit:	22 February 2017
Date of first compliant Open Access:	22 February 2017
Funder:	National Screening Committee

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