Evidence map›Paper›PMID 40901071›Full record

ArticleJIMD reports2025

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Nataliya Yuskiv, Ammar Saad, Beth K Potter, Sylvia Stockler-Ipsiroglu, John J Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J Chow and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. 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

29 authors.

Nataliya YuskivDivision of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.
Ammar SaadSchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.
Beth K PotterSchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.
Sylvia Stockler-IpsirogluDivision of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.
John J MitchellDivision of Medical Genetics Montreal Children's Hospital Montreal Canada.
Steven HawkenMethodological and Implementation Research Program Ottawa Hospital Research Institute Ottawa Ontario Canada.
Kylie TingleySchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.
Michael PuglieseICES uOttawa Ottawa Hospital Research Institute Ottawa Ontario Canada.
Monica LamoureuxThe Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada.
Andrea J ChowSchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.ORCID https://orcid.org/0000-0003-1683-2912
Jonathan B KronickDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.
Kumanan WilsonSchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.
Annette FeigenbaumDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.
Sharan GoobieDepartment of Pediatrics, Maritime Medical Genetics Service, IWK Health Dalhousie University Halifax Nova Scotia Canada.
Michal Inbar-FeigenbergDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.
Julian LittleSchool of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada.ORCID https://orcid.org/0000-0001-5026-5531
Saadet Mercimek-AndrewsDepartment of Medical Genetics, Faculty of Medicine & Dentistry University of Alberta Edmonton Alberta Canada.ORCID https://orcid.org/0000-0001-8396-6764
Amy PenderGenetics & Metabolics McMaster Children's Hospital, Hamilton Health Sciences Hamilton Ontario Canada.
Chitra PrasadDepartment of Pediatrics (Section of Genetics and Metabolism) Western University London Health Sciences Centre London Canada.
Andreas SchulzeDepartment of Paediatrics and Department of Biochemistry University of Toronto Toronto Ontario Canada.
Yannis TrakadisDivision of Medical Genetics, Department of Specialized Medicine McGill University Health Center Montreal Canada.
Gloria HoDivision of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada.
Hilary VallanceDepartment of Pathology and Lab Medicine BC Children's Hospital Vancouver British Columbia Canada.
Valerie AustinDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada.
Anthony VandersteenDepartment of Pediatrics, Maritime Medical Genetics Service, IWK Health Dalhousie University Halifax Nova Scotia Canada.
Andrea C YuDepartment of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada.
Cheryl Rockman-GreenbergDepartment of Pediatrics and Child Health, Max Rady College of Medicine University of Manitoba Winnipeg Manitoba Canada.
Aizeddin A MhanniDepartment of Pediatrics and Child Health, Max Rady College of Medicine University of Manitoba Winnipeg Manitoba Canada.
Pranesh ChakrabortyThe Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediatric metabolic centres across Canada. We abstracted data from medical charts and analyzed outcomes by age and diagnostic classification, using mixed effects regression. Of 215 children included in the study, 43% had a chart diagnosis of classic phenylketonuria (PKU); the remainder had a diagnosis of mild PKU or mild hyperphenylalaninemia (grouped as "less severe PAH deficiency"). During the first month of life, blood phenylalanine levels of children with classic PKU reached the target therapeutic range of 120-360 μmol/L at a median age of 15 days, but 74.3% and 32.9% had ≥ 1 and ≥ 3 values below 120 μmol/L, respectively. From age > 1 month to 12 years, mean blood phenylalanine values were 260.6 and 236.7 μmol/L for children with classic PKU and less severe PAH deficiency, respectively, with a trend of increased blood phenylalanine levels with increasing age (

Indexed as

inborn errors of metabolisminherited metabolic diseasemetabolic controlphenylketonuria

Identifiers

PMID40901071
PMCPMC12401562

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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.