ReviewTranslational pediatrics2014
Phenylketonuria: translating research into novel therapies.
Review in Translational pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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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.
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.
Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Exploring Subpopulations for Epidemiological Precision Nutrition Research: The Example ofNutrients · 2026Article
- The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.International journal of stem cells · 2025Article
- Genetic andFrontiers in genetics · 2025Article
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Mutational landscape of phenylketonuria in Iran.Journal of cellular and molecular medicine · 2023Review
- Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.Orphanet journal of rare diseases · 2022Article
- Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural Protein.Nutrients · 2022Review
- Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase.International journal of molecular sciences · 2022Article
- Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions.Journal of multidisciplinary healthcare · 2022Review
- Engineering Organoids forFrontiers in molecular neuroscience · 2021Review
- Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.Molecular therapy. Methods & clinical development · 2020Article
- IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2020Article
- Tunable Coffee Ring Formation on Polycarbonate Nanofiber Film for Sensitive SERS Detection of Phenylalanine in Urine.ACS omega · 2019Article
- Phenylketonuria: a review of current and future treatments.Translational pediatrics · 2015Review
- PLASMA PHENYLALANINE DETERMINATION BY QUANTITATIVE DENSITOMETRY OF THIN LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH MODERN MANAGEMENT OF PHENYLKETONURIA.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is an inborn error of metabolism of the amino acid phenylalanine. It is an autosomal recessive disorder with a rate of incidence of 1 in 10,000 in Caucasian populations. Mutations in the phenylalanine hydroxylase (PAH) gene are the major cause of PKU, due to the loss of the catalytic activity of the enzyme product PAH. Newborn screening for PKU allows early intervention, avoiding irreparable neurological damage and intellectual disability that would arise from untreated PKU. The current primary treatment of PKU is the limitation of dietary protein intake, which in the long term may be associated with poor compliance in some cases and other health problems due to malnutrition. The only alternative therapy currently approved is the supplementation of BH4, the requisite co-factor of PAH, in the orally-available form of sapropterin dihydrochloride. This treatment is not universally available, and is only effective for a proportion (estimated 30%) of PKU patients. Research into novel therapies for PKU has taken many different approaches to address the lack of PAH activity at the core of this disorder: enzyme replacement via virus-mediated gene transfer, transplantation of donor liver and recombinant PAH protein, enzyme substitution using phenylalanine ammonia lyase (PAL) to provide an alternative pathway for the metabolism of phenylalanine, and restoration of native PAH activity using chemical chaperones and nonsense read-through agents. It is hoped that continuing efforts into these studies will translate into a significant improvement in the physical outcome, as well as quality of life, for patients with PKU.
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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.