ReviewOrphanet journal of rare diseases2025
Current state of the treatment landscape of phenylketonuria.
Review in Orphanet journal of rare diseases, 2025. 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
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
15 citing papers in PubMed.
- Article
- Minicells derived fromApplied and environmental microbiology · 2026Article
- Observational
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Oral Mycobiome Alterations in Children with Phenylketonuria: Associations with Dietary Intake and Metabolic Context-A Pilot Study.Nutrients · 2026Article
- Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review.Nutrients · 2026Review
- Fe(II) with Tris(1-pyrazolyl)methane Complex Increases Thermal Stability In Vitro and Activity In Vivo of the Mutant 447R Form of Mouse Tryptophan Hydroxylase 2.International journal of molecular sciences · 2026Article
- Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects.Intractable & rare diseases research · 2026Review
- Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.Human genomics · 2026Article
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Exploratory benchmarking of AI-generated diet plans for inherited protein metabolism disorders: a simulation-based evaluation of nutritional accuracy and clinical safety.Frontiers in nutrition · 2026Article
- Article
- Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation.International journal of molecular sciences · 2025Review
- Impact of gut probiotic metabolites on phenylketonuria.Frontiers in cellular and infection microbiology · 2025Review
- Genetic andFrontiers in genetics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
backgroundPhenylketonuria (PKU) is an inborn error of amino acid metabolism caused by a deficiency of the L-phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin (BH4) resulting in increased levels of phenylalanine (Phe) in blood and cerebrospinal fluid. Symptoms include hypopigmentation, a musty, mouse-like smell and various neurological complications. MAIN TEXT: Treatment options include (i) dietary restriction of Phe with supplementation of other amino acids and micronutrients through medical mixtures, (ii) daily dosing of large neutral amino acids, (iii) synthetic forms of BH4 and (iv) bacterial phenylalanine ammonia lyase enzymes. The primary goal of treatment is to lower blood Phe levels and improve quality of life. However, treatment is very demanding for patients as well as their families, and not all treatment options are applicable to every patient.
conclusionThis review gives a state-of-the-art overview of current treatment options for all PKU patients and additionally speculates on future therapeutic approaches.
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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.