PhenylketonuriaNews & Research
13 curated articles for Phenylketonuria — FDA updates, peer-reviewed research, clinical-trial milestones, and sponsor press releases. Sorted newest-first.
- Nutrients May 13, 2026
Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review.
Phenylketonuria (PKU) is an autosomal recessive disorder characterised by an inborn error of phenylalanine (Phe) metabolism. Such errors are attributed to pathogenic gene variants causing phenylalanine hydroxylase (PAH) deficiency, impairing the hydroxylation of phenylalanine to tyrosine in the Phe ...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Molecular genetics and metabolism May 12, 2026
Sepiapterin: From sapropterin to next-generation therapy.
Sepiapterin is a naturally occurring pteridine and BH4 precursor that links classic pterin chemistry to tetrahydrobiopterin biology. Tetrahydrobiopterin (BH4; sapropterin) is an essential redox-active cofactor for phenylalanine hydroxylase (PAH), the aromatic amino acid hydroxylases, and nitric oxid...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- The Journal of dairy research May 11, 2026
Isolation and purification of κ-casein glycomacropeptide: A review.
Bovine glycomacropeptide (GMP), present in cheese whey, is a glycan-phosphopeptide complex released from κ-casein by the action of chymosin during cheese making. Because GMP lacks phenylalanine and tyrosine, it is considered a potential dietary source of amino acids for patients with phenylket...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- EXCLI journal May 7, 2026
Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.
Loss-of-function variants in the human phenylalanine hydroxylase ( PAH ) gene are the most common genetic causal factors for Phenylketonuria (PKU). Currently, a broad spectrum of variations is recognized in the human PAH gene. However, the molecular function and clinical significance of some novel P...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Journal of inherited metabolic disease May 3, 2026
Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status.
Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eight...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Japanese journal of ophthalmology Apr 18, 2026
Evaluation of corneal and anterior segment parameters in pediatric phenylketonuria.
To compare anterior segment parameters in healthy children of the same age with those in children with phenylketonuria (PKU). Retrospective observational study METHODS: Data from 25 eyes of PKU patients (study group) and 60 eyes of age- and gender-matched children (control group) were analyzed. The ...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Genetics in medicine : official journal of the American College of Medical Genetics Apr 11, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.
To report interim results from the ongoing, open-label, phase 3 APHENITY Extension Study (NCT05166161), evaluating long-term treatment with sepiapterin in patients with phenylketonuria. Participants received an age-based dose of oral sepiapterin daily; those with mean blood phenylalanine (Phe) level...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Orphanet journal of rare diseases Apr 11, 2026
The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.
Phenylketonuria (PKU) is one of the common Inborn Errors of Metabolism diseases, that is caused by a phenylalanine hydroxylase (PAH) deficiency or cofactor tetrahydrobiopterin. This systematic review and meta-analysis aimed to investigate the prevalence of PKU in Iran. The protocol was registered in...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Reviews on recent clinical trials Mar 31, 2026
Artificial Intelligence in Phenylketonuria: Bridging Conventional Gaps in Diagnosis and Treatment- A Systematic Review.
Phenylketonuria (PKU) is an autosomal recessive condition of phenylalanine metabolism, characterized by abnormally high phenylalanine concentrations that lead to brain damage. These illnesses are caused by mutations in genes that encode proteins or enzymes involved in metabolic processes. It causes ...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Metabolism: clinical and experimental Mar 9, 2026
Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.
AMPLIPHY is the first Phase 3 study comparing sepiapterin versus sapropterin in children and adults with phenylketonuria (PKU). AMPLIPHY was an international, Phase 3, two-part, open-label study in participants with PKU aged ≥2 years. Participants responsive to sepiapterin (60 mg/kg...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Metabolomics : Official journal of the Metabolomic Society Mar 7, 2026
Metabolomic profiling in phenylketonuria: a systematic review of human studies.
Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine (Phe). Raised Phe levels can result in neurocognitive deficits, intellectual disabilities, and behavioral or psychiatric disorders. To condu...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- International journal of neonatal screening Feb 20, 2026
Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.
Newborn bloodspot screening (NBS) began in Guthrie's laboratory in 1961 for phenylketonuria. A federal study the following year formed the basis for expanding NBS as a public health function. Diseases detectable through NBS gradually expanded, eventually including sickle cell anemia, which was inclu...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
- Mitochondrion Feb 9, 2026
A 3-hit metabolic signaling model for the core symptoms of autism spectrum disorder.
A 3-hit metabolic signaling model of the causes of autism spectrum disorder (ASD) is described. The 3-hits required for ASD are: 1) inheritance of a genotype that sensitizes mitochondria and/or eATP-stimulated, intracellular calcium signaling to environmental change, 2) early exposure to environment...
Why it matters: Recent peer-reviewed research on Phenylketonuria that may be relevant for patients and caregivers.
More on Phenylketonuria
Articles aggregated from peer-reviewed journals (PubMed), sponsor press releases, SEC 8-K filings, and FDA announcements. Original-source links are preserved on each article page. Editorial tags (Breaking / Notable / Update) reflect UniteRare's curation-time priority assessment.