Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide [PDF]
International Journal of Neonatal ScreeningIn The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is ...
Allysa M. Kuypers +9 more
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A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone [PDF]
International Journal of Neonatal Screening, 2023 Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker
Allysa M. Dijkstra +9 more
doaj +2 more sources
Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples [PDF]
JIMD Reports, 2020 Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both
Hilde Laeremans +9 more
doaj +2 more sources
Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience [PDF]
JIMD ReportsHereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam +7 more
doaj +2 more sources
Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference intervals. [PDF]
PLoS ONE, 2023 BackgroundThe study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.MethodologyDBS samples were collected within ...
Lena Jafri +7 more
doaj +2 more sources
Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias [PDF]
JIMD ReportsTyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal ...
Denis Cyr +2 more
doaj +2 more sources
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center [PDF]
International Journal of Neonatal ScreeningNewborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAAI) deficiency ...
Gwendolyn Gramer +7 more
doaj +2 more sources
Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone [PDF]
International Journal of Neonatal ScreeningCurrently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed.
Marelle J. Bouva +9 more
doaj +2 more sources
Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol [PDF]
Frontiers in Genetics, 2023 Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC ...
Gulmira Zharmakhanova +9 more
doaj +2 more sources
Clinical experience with hepatorenal tyrosinemia from a single Egyptian center [PDF]
PLoS ONE, 2022 Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all
Hanaa El-Karaksy +6 more
doaj +3 more sources