Evidence map›Paper›PMID 24385075›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2014

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.

Rani H Singh, Fran Rohr, Dianne Frazier, Amy Cunningham, Shideh Mofidi, Beth Ogata, Patricia L Splett, Kathryn Moseley, Kathleen Huntington, Phyllis B Acosta and 2 more

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
96citing papers in PubMed, 3 pooled it
12.7field-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.

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

96 citing papers in PubMed, 3 syntheses or guidelines pooled it, 218 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Trial
  6. Trial
  7. Article
  8. Article
  9. A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil.International journal of environmental research and public health · 2026
    Article
  10. Article
  11. Observational
  12. Review
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  14. Article
  15. Article
  16. Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025
    Review
  17. Review
  18. Article
  19. Article
  20. Article

36 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

12 authors at 10 institutions in 1 country.

Rani H SinghDivision of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Fran RohrDivision of Genetics and Metabolism, Boston Children's Hospital, Boston, Massachusetts, USA.
Dianne FrazierDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Amy CunninghamHayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
Shideh MofidiInherited Metabolic Disease Center, Maria Fareri Children's Hospital, Westchester Medical Center, New York Medical College, Valhalla, New York, USA.
Beth OgataDepartment of Pediatrics, University of Washington, Seattle, Washington, USA.
Patricia L SplettSplett & Associates, Stanchfield, Minnesota, USA.
Kathryn MoseleyDepartment of Pediatrics, University of Southern California Medical Center, Los Angeles, California, USA.
Kathleen HuntingtonMetabolic Clinic, Institute for Development and Disability, Oregon Health Science University, Portland, Oregon, USA.
Phyllis B AcostaPrivate practice, Atlanta, Georgia, USA.
Jerry Vockley1] Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA [2] Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Sandra C Van CalcarDivision of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
AID Atlanta · USBoston Children's Hospital · USEmory University · USLos Angeles Medical Center · USMaria Fareri Children's Hospital · USTulane University · USUniversity of North Carolina at Chapel Hill · USUniversity of Pittsburgh · USUniversity of Washington · USUniversity of Wisconsin–Madison · US

Funding

Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
NCATS NIH HHS UL1 TR000427
6 · The paper itself

Abstract

The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the diet for phenylalanine hydroxylase deficiency have been made over the years, and adjunctive therapies have proven to be successful for certain patients. Yet evidence-based guidelines for managing phenylalanine hydroxylase deficiency, optimizing outcomes, and addressing all available therapies are lacking. Thus, recommendations for nutrition management were developed using evidence from peer-reviewed publications, gray literature, and consensus surveys. The areas investigated included choice of appropriate medical foods, integration of adjunctive therapies, treatment during pregnancy, monitoring of nutritional and clinical markers, prevention of nutrient deficiencies, providing of access to care, and compliance strategies. This process has not only provided assessment and refinement of current nutrition management and monitoring recommendations but also charted a direction for future studies. This document serves as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylalanine hydroxylase deficiency.

Indexed as

Practice Guidelines as TopicPregnancyEvidence-Based MedicineFemaleHumansPatient CompliancePhenylalaninePhenylketonuriasTyrosinePhenylalanineTyrosine

Identifiers

PMID24385075
PMCPMC3918542
OpenAlexW2110312890

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.