Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program
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Authors
Zytkovicz, Thomas H.Sahai, Inderneel
Rush, Amii
Odewale, Adedoyin
Johnson, Donna M.
Fitzgerald, Eileen F.
Britton, Deborah
Eaton, Roger B.
Document Type
Journal ArticlePublication Date
2013-05-01Keywords
Neonatal ScreeningTyrosinemias
Tyrosinemia
Succinylacetone
Newborn screening
Dried blood spots
Tandem mass spectrometry
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Investigative Techniques
Maternal and Child Health
Medical Biochemistry
Nervous System Diseases
Nutritional and Metabolic Diseases
Pediatrics
Metadata
Show full item recordAbstract
OBJECTIVE: The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput screening. DESIGN AND METHODS: Succinylacetone (SUAC), the marker for HT, was extracted from dried blood spots with the formation of the hydrazone derivative of SUAC; up to eight sample extracts were pooled and the SUAC-derivative was analyzed by mass spectrometry methods with an injection-to-injection time of one minute. If any pooled sample extract screened positive, then the samples comprising the pooled sample were assayed individually. RESULTS: Two newborn infants were identified with high levels of SUAC (7 and 23muM) and later confirmed to have HT. Three older children whose initial filter paper samples were taken at 195days to 614days of age with elevated SUAC (range 4.9-5muM) were identified; one of the three had clinical signs of HT and was placed on treatment (diagnosis of the other two are unavailable). CONCLUSION: MS/MS analysis of pooled dried blood sample extracts permits sensitive, reduced instrumental analytical time and increase high throughput screening for HT. Elsevier Inc. All rights reserved.Source
Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Link to article on publisher's site
DOI
10.1016/j.clinbiochem.2013.02.002Permanent Link to this Item
http://hdl.handle.net/20.500.14038/30168PubMed ID
23462696Related Resources
ae974a485f413a2113503eed53cd6c53
10.1016/j.clinbiochem.2013.02.002