Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metaboli...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
The documentation surrounding tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria is limited primarily due to its rarity, which restricts the scope of systematic clinical studies. As a relatively newly characterized condition, ongoing research is needed to better understand its clinical features and genetic underpinnings. This can be frustrating, but it also highlights the importance of advancing research efforts in this area.
To navigate your care effectively, seek specialists in metabolic disorders or geneticists with experience in amino acid metabolism. These professionals can provide tailored management strategies and support. Consider reaching out to resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information. Although no patient organizations are currently identified for this condition, participating in clinical trials may also provide valuable insights and access to new treatments.
There are several orphan drugs approved for managing this condition, including pegvaliase-pqpz, sapropterin, and sepiapterin. Additionally, multiple drugs are currently designated for development, such as a gene therapy targeting the phenylalanine hydroxylase gene and various small molecules aimed at stabilizing enzyme function. You can explore ongoing clinical trials through this link: https://clinicaltrials.gov/search?cond=tetrahydrobiopterin-responsive%20hyperphenylalaninemia%2Fphenylketonuria. This research landscape offers hope for improved treatment options in the future.
Actionable guidance for navigating care for tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
To navigate your care effectively, seek specialists in metabolic disorders or geneticists with experience in amino acid metabolism. These professionals can provide tailored management strategies and support. Consider reaching out to resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information. Although no patient organizations are currently identified for this condition, participating in clinical trials may also provide valuable insights and access to new treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
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