Evidence map›Paper›PMID 34841073›Full record

ArticleClinical mass spectrometry (Del Mar, Calif.)2019

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

Ana Škaričić, Marija Zekušić, Ksenija Fumić, Dunja Rogić, Valentina Uroić, Danijela Petković Ramadža, Tamara Žigman, Ivo Barić

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical mass spectrometry (Del Mar, Calif.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 99% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Ana ŠkaričićDepartment of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Marija ZekušićDepartment of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Ksenija FumićDepartment of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Dunja RogićDepartment of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
Valentina UroićDepartment of Nutrition and Dietetics, University Hospital Center Zagreb, Zagreb, Croatia.
Danijela Petković RamadžaDepartment of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
Tamara ŽigmanDepartment of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
Ivo BarićDepartment of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.
University Hospital Centre Zagreb · HR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tyrosinemia type 1 is an autosomal recessive aminoacidopathy caused by fumarylacetoacetate hydrolase (FAH) deficiency. Consequently, tyrosine and its metabolites accumulate, resulting in liver and kidney toxicity. Symptoms of the disease usually manifest after three weeks of life and include vomiting, failure to thrive, hepatomegaly, jaundice, bleeding diathesis, rickets and renal tubular dysfunction. Untreated, the disease eventually progresses to liver or kidney failure and generally results in a fatal outcome. Expedient diagnosis is critical because an early start of treatment can increase the likelihood of a positive outcome. Here, we report on a male newborn with a family history positive for tyrosinemia type 1 who was subjected to a metabolic work-up immediately after birth. Amino acids were quantified by tandem mass spectrometry coupled with ultra performance liquid chromatography. Urinary organic acids were analyzed on capillary gas chromatography coupled with mass spectrometry. DNA analysis of the FAH gene was performed by Sanger sequencing. On the first day of life, the patient's plasma amino acids showed an increased tyrosine concentration, while urine organic acids detected succinylacetone, a tyrosine metabolite specific for tyrosinemia type 1. The patient's DNA analysis revealed homozygosity of the c.554-1G > T mutation in the

Indexed as

BSTFA+1%TCMS, N,O-Bis (trimethylsilyl)trifluoroacetamide with 1% trimethylchlorosilane 99:1CE, collision energyCXP, collision cell exit potentialDBS, dried blood spotDP, declustering potentialEP, entrance potentialESI, electrospray ionizationFAA, fumarylacetoacetateFAH, fumarylacetoacetate hydrolaseGC MS, capillary gas chromatography coupled with mass spectrometryGS1, nebulizer gasGS2, heater gasHCl, hydrochloric acidLC-MS/MS, tandem mass spectrometry coupled with ultra performance liquid chromatographyMRM, multiple reaction monitoringNBS, newborn screeningNTBC, 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedionePFBO, O-(2,3,4,5,6-Pentafluorobenzyl)hydroxylamine hydrochlorideQ1, first quadrupoleQ3, third quadrupoleRCF, Relative Centrifugal ForceRP, reverse phaseSUAC, succinylacetoneTIC, Total Ion ChromatogramTyr_IS, tyrosine internal standardTYRSN1, tyrosinemia type 1Tyr, tyrosine

Identifiers

PMID34841073
PMCPMC8620914
OpenAlexW2913418124

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.