Evidence map›Paper›PMID 33369132›Full record

ArticleAmerican journal of medical genetics. Part A2021

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Kathryn Clarkston, Joy Lee, Sarah Donoghue, Heidi Peters, Hernan Eiroa, Amit A Shah, Kathleen Loomes, Jessica Wen, Mark Oliver, Winita Hardikar and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 81% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Article
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

12 authors at 4 institutions in 3 countries.

Kathryn ClarkstonDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Joy LeeDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Sarah DonoghueDepartment of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.
Heidi PetersDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Hernan EiroaServicio de Errores Congenitos del Metabolismo, Hospital de Pediatria "J.P.Garrahan", Buenos Aires, Argentina.
Amit A ShahDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Kathleen LoomesDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Jessica WenDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Mark OliverDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Winita HardikarDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Carlos E PradaDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.ORCID 0000-0003-3348-3531
Akihiro AsaiDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.ORCID 0000-0003-3029-5754
Royal Children's Hospital · AUChildren's Hospital of Philadelphia · USCincinnati Children's Hospital Medical Center · USGarrahan Hospital · AR

Funding

PEDIATRIC GASTROENTEROLOGY AND NUTRITION TRAINING GRANTT32DK007727 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Phillip P Minar · 1995 to 2026
$11.3M
NIDDK NIH HHS T32 DK007727
6 · The paper itself

Abstract

We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial hyperammonemia and coagulopathy is followed by a delayed peak in aminotransferase levels. None of the patients required urgent liver transplantation, though five eventually underwent transplant for recurrent metabolic crises. We intend that this novel observation will initiate further investigations into the pathophysiology of liver dysfunction in OTC-deficient patients, and ultimately lead to the development of therapies and prevent the need for liver transplant.

Indexed as

Age of OnsetAlanine TransaminaseAmino Acid SubstitutionAspartate AminotransferasesBiomarkersChild, PreschoolCombined Modality TherapyDevelopmental DisabilitiesDisease ProgressionFemaleHemorrhagic DisordersHumansHyperammonemiaInfantInternational Normalized RatioLiver DiseasesAlanine TransaminaseAspartate AminotransferasesBiomarkersacute liver dysfunctionfemale manifestation of OTC deficiencyhepatic lyonizationhyperammonemiaornithine transcarbamylase

Identifiers

PMID33369132
PMCPMC7974766
OpenAlexW3115311050

What OpenQuestion holds

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Registered trials

None linked

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.