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
Effect of succinylacetone on heme and cytochrome P450 synthesis in hepatocyte culture [PDF]
FEBS Letters, 1983 The effects of succinylacetone, a tyrosine metabolite, on the hepatic biosynthesis of heme and cytochrome P450 were studied in primary culture of chick embryo hepatocytes. Succinylacetone potentiated the phenobarbital‐mediated induction of δ‐aminolevulinate synthase, strongly inhibited porphobilinogen synthase activity, reduced cellular heme ...
Urs A Meyer
exaly +3 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
Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report [PDF]
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong +3 more
wiley +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
Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening [PDF]
Orphanet Journal of Rare DiseasesBackground Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism.
Peiyao Wang +9 more
doaj +2 more sources
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model [PDF]
European Thyroid Journal, 2023 Objective: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances.
Heleen I Jansen +12 more
doaj +2 more sources
Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66” [PDF]
Int J Neonatal ScreenWe thank the authors for their comments [...].
Bodewes, Frank A J A +9 more
core +4 more sources
Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen +6 more
doaj +2 more sources