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Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
Biomarker and diagnostic research for mild hyperphenylalaninemia has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for mild hyperphenylalaninemia.
13 publications have been identified in PubMed for mild hyperphenylalaninemia. Research spans Epidemiology / Natural History (46%), Diagnostic / Biomarker (15%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 6 | 46% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Testing and diagnosis research
2 |
15% |
Research summaries | 2 | 15% |
Laboratory research | 2 | 15% |
Patient case studies | 1 | 8% |
Balasar Ö (2025). [PMID: 39039323](https://pubmed.ncbi.nlm.nih.gov/39039323/). *Biochem Genet*. [Basic Science / Preclinical]
Consentino MC (2025). [PMID: 39940237](https://pubmed.ncbi.nlm.nih.gov/39940237/). *Nutrients*. [Diagnostic / Biomarker]
Yuskiv N (2025). [PMID: 40901071](https://pubmed.ncbi.nlm.nih.gov/40901071/). *JIMD Rep*. [Epidemiology / Natural History]
Ou MM (2025). [PMID: 41357791](https://pubmed.ncbi.nlm.nih.gov/41357791/). *Front Pediatr*. [Epidemiology / Natural History]
Zhang C (2025). [PMID: 40695512](https://pubmed.ncbi.nlm.nih.gov/40695512/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Epidemiology / Natural History]
Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metab Brain Dis*. [Epidemiology / Natural History]
Ogawa E (2025). [PMID: 41133280](https://pubmed.ncbi.nlm.nih.gov/41133280/). *Pediatr Int*. [Case Report / Case Series]
Alavanda C (2024). [PMID: 38706300](https://pubmed.ncbi.nlm.nih.gov/38706300/). *J Pediatr Endocrinol Metab*. [Basic Science / Preclinical]
Luengo-Pérez LM (2024). [PMID: 38931188](https://pubmed.ncbi.nlm.nih.gov/38931188/). *Nutrients*. [Review / Meta-Analysis]
Aguirre AS (2024). [PMID: 39548419](https://pubmed.ncbi.nlm.nih.gov/39548419/). *BMC Pediatr*. [Review / Meta-Analysis]