Evidence map›Paper›PMID 29025426›Full record

ReviewOrphanet journal of rare diseases2017

The complete European guidelines on phenylketonuria: diagnosis and treatment.

A M J van Wegberg, A MacDonald, K Ahring, A Bélanger-Quintana, N Blau, A M Bosch, A Burlina, J Campistol, F Feillet, M Giżewska and 9 more

Registry-linked trialOpen access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04969809 (Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients), which is not on this map. Cited by 416 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
416citing papers in PubMed, 12 pooled it
35.4field-weighted citation impact, top 1% 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.

NCT04969809 nanot yet recruitingnot on this mapstarted 2021, after this paper: background citation

Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients

TypeinterventionalSponsorUniversity Medical Centre LjubljanaRan2021 to 2026Enrolled50ConditionsPhenylketonurias, Nutritional and Metabolic DiseasesArmsUltrasound of the jugular veins, addition of phenylalanine-free protein substitutes
3 · Its place in the literature

Who cites it

416 citing papers in PubMed, 12 syntheses or guidelines pooled it, 806 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026
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  13. Trial
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356 more citing papers are in PubMed but not listed here.

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

19 authors at 16 institutions in 9 countries.

A M J van WegbergDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands.
A MacDonaldDietetic Department, Birmingham Children's Hospital, Birmingham, UK.
K AhringDepartment of PKU, Kennedy Centre, Glostrup, Denmark.
A Bélanger-QuintanaMetabolic Diseases Unit, Department of Paediatrics, Hospital Ramon y Cajal Madrid, Madrid, Spain.
N BlauUniversity Children's Hospital, Dietmar-Hoppe Metabolic Centre, Heidelberg, Germany.
A M BoschDepartment of Paediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, The Netherlands.
A BurlinaDivision of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.
J CampistolNeuropaediatrics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
F FeilletDepartment of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
M GiżewskaDepartment of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
S C HuijbregtsDepartment of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, The Netherlands.
S KearneyClinical Psychology Department, Birmingham Children's Hospital, Birmingham, UK.
V LeuzziDepartment of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.
F MaillotCHRU de Tours, Université François Rabelais, INSERM U1069, Tours, France.
A C MuntauUniversity Children's Hospital, University Medical Centre Hamburg-Eppendorf, 20246, Hamburg, Germany.
M van RijnDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands.
F TrefzDepartment of Paediatrics, University of Heidelberg, Heidelberg, Germany.
J H WalterMedicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
F J van SpronsenDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands. f.j.van.spronsen@umcg.nl.
University Medical Center Groningen · NLBirmingham Children's Hospital · GBHeidelberg University · DEHôpital d'Enfants · FRHospital Universitario Ramón y Cajal · ESKennedy Center · DKLeiden University · NLManchester Academic Health Science Centre · GBPomeranian Medical University · PLSapienza University of Rome · ITUniversitat de Barcelona · ESUniversität Hamburg · DEUniversité de Tours · FRUniversity Hospital Heidelberg · DEUniversity of Amsterdam · NLUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

Indexed as

Practice Guidelines as TopicEuropeHumansPhenylketonuriasEuropeanGuidelinesHyperphenylalaninemiaManagementPAH deficiencyPhenylalaninePhenylalanine hydroxylase deficiencyPhenylketonuriaPKURecommendationsSapropterinTetrahydrobiopterinTreatment

Identifiers

PMID29025426
PMCPMC5639803
OpenAlexW2761810763

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.