ReviewMolecular genetics and metabolism2011
Up to date knowledge on different treatment strategies for phenylketonuria.
Review in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled 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.
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
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled it
- Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2018Pooled it
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
- Psychosocial adaptation of children and adolescents with phenylketonuria in Korea.Molecular genetics and metabolism reports · 2025Article
- Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.Journal of inherited metabolic disease · 2025Article
- Mutational landscape of phenylketonuria in Iran.Journal of cellular and molecular medicine · 2023Review
- Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing.PloS one · 2021Article
- Study of the Potential of the Capsule Shell Based on Natural Polysaccharides in Targeted Delivery of the L-Phenylalanine Ammonia-Lyase Enzyme Preparation.Pharmaceuticals (Basel, Switzerland) · 2020Article
- Immunogenicity Risk Assessment for PEGylated Therapeutics.The AAPS journal · 2020Review
- The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism.Expert opinion on orphan drugs · 2020Article
- Engineering Strategies for Oral Therapeutic Enzymes to Enhance Their Stability and Activity.Advances in experimental medicine and biology · 2019Review
- Effect of natural PAL-enzyme on the quality of egg white and mushroom flour and study its impact on the expression of PKU related genes and phenylalanine reduction in mice fed on.Journal, genetic engineering & biotechnology · 2017Article
- Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.Health and quality of life outcomes · 2017Article
- Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.PloS one · 2017Article
- Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.Annals of nutrition & metabolism · 2017Article
- Dietary intervention in the management of phenylketonuria: current perspectives.Pediatric health, medicine and therapeutics · 2016Review
- Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.Orphanet journal of rare diseases · 2015Observational
- Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.Orphanet journal of rare diseases · 2015Article
- Immobilization of Phenylalanine Ammonia-Lyase on Single-Walled Carbon Nanotubes for Stereoselective Biotransformations in Batch and Continuous-Flow Modes.ChemCatChem · 2015Article
- Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model.Journal of neurochemistry · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 4 countries.
Funding
Abstract
Dietary management for phenylketonuria was established over half a century ago, and has rendered an immense success in the prevention of the severe mental retardation associated with the accumulation of phenylalanine. However, the strict low-phenylalanine diet has several shortcomings, not the least of which is the burden it imposes on the patients and their families consequently frequent dietary non-compliance. Imperfect neurological outcome of patients in comparison to non-PKU individuals and nutritional deficiencies associated to the PKU diet are other important reasons to seek alternative therapies. In the last decade there has been an impressive effort in the investigation of other ways to treat PKU that might improve the outcome and quality of life of these patients. These studies have lead to the commercialization of sapropterin dihydrochloride, but there are still many questions regarding which patients to challenge with sapropterin what is the best challenge protocol and what could be the implications of this treatment in the long-term. Current human trials of PEGylated phenylalanine ammonia lyase are underway, which might render an alternative to diet for those patients non-responsive to sapropterin dihydrochloride. Preclinical investigation of gene and cell therapies for PKU is ongoing. In this manuscript, we will review the current knowledge on novel pharmacologic approaches to the treatment of phenylketonuria.
Indexed as
Identifiers
What OpenQuestion holds
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.