Evidence map›Paper›PMID 26835392›Full record

ReviewTranslational pediatrics2015

Phenylketonuria: a review of current and future treatments.

Naz Al Hafid, John Christodoulou

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

Review in Translational pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 4 pooled it
10.4field-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.

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

84 citing papers in PubMed, 4 syntheses or guidelines pooled it, 190 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Trial
  7. Article
  8. Minicells derived fromApplied and environmental microbiology · 2026
    Article
  9. Article
  10. Gene-sized editing for the therapy of genetic diseases.Functional & integrative genomics · 2026
    Review
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  17. Review
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  19. Review
  20. Impact of gut probiotic metabolites on phenylketonuria.Frontiers in cellular and infection microbiology · 2025
    Review

24 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

2 authors at 1 institution in 1 country.

Naz Al Hafid1 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia ; 2 Genetic Metabolic Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia ; 3 Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.
John Christodoulou1 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia ; 2 Genetic Metabolic Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia ; 3 Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.
The University of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the main clinical feature is intellectual disability. Treatment, which includes a low Phe diet supplemented with amino acid formulas, commences soon after diagnosis within the first weeks of life. Although dietary treatment has been successful in preventing intellectual disability in early treated PKU patients, there are major issues with dietary compliance due to palatability of the diet. Other potential issues associated with dietary therapy include nutritional deficiencies especially vitamin D and B12. Suboptimal outcomes in cognitive and executive functioning have been reported in patients who adhere poorly to dietary therapy. There have been continuous attempts at improving the quality of medical foods including their palatability. Advances in dietary therapy such as the use of large neutral amino acids (LNAA) and glycomacropeptides (GMP; found within the whey fraction of bovine milk) have been explored. Gene therapy and enzyme replacement or substitution therapy have yielded more promising data in the recent years. In this review the current and possible future treatments for PKU are discussed.

Indexed as

dietary therapyglycomacropeptides (GMP)large neutral amino acids (LNAA)phenylalanine ammonia lyasephenylalanine hydroxylase (PAH)Phenylketonuria (PKU)probiotictetrahydrobiopterin

Identifiers

PMID26835392
PMCPMC4728993
OpenAlexW1915707355

What OpenQuestion holds

Textmetadata
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.