ArticleJIMD reports2011
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
Article in JIMD reports, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.Orphanet journal of rare diseases · 2017Pooled it
- Variants inGenes · 2025Review
- Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.Journal of inherited metabolic disease · 2025Review
- Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.International journal of neonatal screening · 2024Article
- A child with dendritiform eye lesions and developmental delay.American journal of ophthalmology case reports · 2022Article
- Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (Molecular genetics and metabolism reports · 2022Article
- [Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]Revista espanola de salud publica · 2020Article
- Development of Strategies to Decrease False Positive Results in Newborn Screening.International journal of neonatal screening · 2020Review
- The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.International journal of neonatal screening · 2020Article
- Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.Clinical mass spectrometry (Del Mar, Calif.) · 2019Article
- A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I.Iranian journal of pediatrics · 2016Article
- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.JIMD reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxic metabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for newborn screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC during expanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic newborn affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 μmol/L, n.v. < 2) and normal tyrosine concentration (74 μmol/L; n.v. < 250). We also performed molecular analysis of FAH gene in both patients after diagnosis at newborn screening. They had consanguineous parents and were both homozygous for two known disease-causing mutations of the FAH gene. The outcome of patients detected in the MS/MS screening is significantly favorable. We also report our results of newborn screening for tyrosinemia type I before and after inclusion of SUAC as a primary marker for this disease.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.