UMass Chan Medical School Faculty Publications


Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program

UMMS Affiliation

New England Newborn Screening Program; Department of Pediatrics

Publication Date


Document Type



Neonatal Screening; Tyrosinemias


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Investigative Techniques | Maternal and Child Health | Medical Biochemistry | Nervous System Diseases | Nutritional and Metabolic Diseases | Pediatrics


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.


Tyrosinemia, Succinylacetone, Newborn screening, Dried blood spots, Tandem mass spectrometry

DOI of Published Version



Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Link to article on publisher's site

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

Clinical biochemistry

PubMed ID