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Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Biomarker and diagnostic research for maternal phenylketonuria has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
17 publications have been identified in PubMed for maternal phenylketonuria. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (19%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 3 | 19% |
Disease patterns and progression | 3 | 19% |
Other research | 2 | 13% |
Clinical study results | 2 | 13% |
Testing and diagnosis research | 1 | 6% |
Laboratory research | 1 | 6% |
Verduci E (2026). [PMID: 41599812](https://pubmed.ncbi.nlm.nih.gov/41599812/). *Nutrients*. [Review / Meta-Analysis]
Lundkvist P (2026). [PMID: 41346395](https://pubmed.ncbi.nlm.nih.gov/41346395/). *JIMD reports*. [Case Report / Case Series]
Luo L (2026). [PMID: 41594288](https://pubmed.ncbi.nlm.nih.gov/41594288/). *Diagnostics (Basel, Switzerland)*. [Diagnostic / Biomarker]
Leone G (2025). [PMID: 40005006](https://pubmed.ncbi.nlm.nih.gov/40005006/). *Nutrients*. [Review / Meta-Analysis]
Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metabolic brain disease*. [Epidemiology / Natural History]
Donarska J (2025). [PMID: 40004633](https://pubmed.ncbi.nlm.nih.gov/40004633/). *Journal of clinical medicine*. [Case Report / Case Series]
Sestito S (2025). [PMID: 38651794](https://pubmed.ncbi.nlm.nih.gov/38651794/). *Nutrition and health*. [Case Report / Case Series]
Harris C (2025). [PMID: 39110147](https://pubmed.ncbi.nlm.nih.gov/39110147/). *Qualitative health research*. [Other]
De Robertis V (2025). [PMID: 40208627](https://pubmed.ncbi.nlm.nih.gov/40208627/). *Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology*. [Review / Meta-Analysis]
Gautiero C (2025). [PMID: 40292461](https://pubmed.ncbi.nlm.nih.gov/40292461/). *Nutrients*. [Clinical Trial Publication]
AI-curated news mentioning maternal phenylketonuria
Updated Aug 12, 2026
Research highlights the potential of base editing to improve neurological symptoms in a mouse model of phenylketonuria (PKU). This study underscores the promise of gene editing technologies for addressing metabolic diseases.
A recent integrative review highlights the critical role of family caregiving in managing pediatric phenylketonuria (PKU). This research underscores the often-overlooked support systems that are essential for effective treatment and care.
A cross-sectional study explores the sexual and reproductive life of adolescents and young adults with phenylketonuria (PKU). The findings contribute to understanding the unique challenges faced by this population.
Prime Medicine plans to seek accelerated approval for its gene-editing therapy targeting chronic granulomatous disease, an ultra-rare disorder affecting 1 in 200,000 individuals. Meanwhile, Aurora Therapeutics aims to develop CRISPR-based therapies for phenylketonuria, impacting 1 in 15,000 US newborns, as the FDA considers relaxed regulations to enhance access to treatments for rare genetic diseases.
PackGene Biotech is advancing AAV gene therapy for rare diseases, focusing on novel capsids for targeted delivery and dual-vector strategies for large genes. Ongoing trials are investigating therapies for glycogen storage diseases, urea cycle disorders like ornithine transcarbamylase deficiency, and phenylketonuria.