Evidence map›Paper›PMID 39330486›Full record

ArticleMetabolites2024

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Jorine C van der Weerd, Annemiek M J van Wegberg, Theo S Boer, Udo F H Engelke, Karlien L M Coene, Ron A Wevers, Stephan J L Bakker, Pim de Blaauw, Joost Groen, Francjan J van Spronsen and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Metabolites, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. 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

11 authors.

Jorine C van der WeerdDepartment of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Annemiek M J van WegbergDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-9402-4833
Theo S BoerDepartment of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Udo F H EngelkeDepartment of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Karlien L M CoeneDepartment of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Ron A WeversDepartment of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-2278-9746
Stephan J L BakkerDivision of Nephrology, Department of Internal Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0003-3356-6791
Pim de BlaauwDepartment of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Joost GroenDepartment of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0003-3087-8087
Francjan J van SpronsenDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3773-1929
M Rebecca Heiner-FokkemaDepartment of Laboratory Medicine, Laboratory of Metabolic Disease, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3477-0770

Funding

Dutch association of inherited metabolic diseases Not applicableNutricia Research (Netherlands) 2019N0174
6 · The paper itself

Abstract

backgroundData suggest that metabolites, other than blood phenylalanine (Phe), better and independently predict clinical outcomes in patients with phenylketonuria (PKU).

methodsTo find new biomarkers, we compared the results of untargeted lipidomics and metabolomics in treated adult PKU patients to those of matched controls. Samples (lipidomics in EDTA-plasma (22 PKU and 22 controls) and metabolomics in serum (35 PKU and 20 controls)) were analyzed using ultra-high-performance liquid chromatography and high-resolution mass spectrometry. Data were subjected to multivariate (PCA, OPLS-DA) and univariate (Mann-Whitney U test,

resultsLevels of 33 (of 20,443) lipid features and 56 (of 5885) metabolite features differed statistically between PKU patients and controls. For lipidomics, findings include higher glycerolipids, glycerophospholipids, and sphingolipids species. Significantly lower values were found for sterols and glycerophospholipids species. Seven features had unknown identities. Total triglyceride content was higher. Higher Phe and Phe catabolites, tryptophan derivatives, pantothenic acid, and dipeptides were observed for metabolomics. Ornithine levels were lower. Twenty-six metabolite features were not annotated.

conclusionsThis study provides insight into the metabolic phenotype of PKU patients. Additional studies are required to establish whether the observed changes result from PKU itself, diet, and/or an unknown reason.

Indexed as

lipidomicsmass-spectrometrymetabolomicsphenylalaninephenylketonuriauntargeted

Identifiers

PMID39330486
PMCPMC11434371

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.