Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
Tetrahydrobiopterin-responsive phenylketonuria
Suggest an update
Your message has been sent
Your message has not been sent. Please contact an administrator.
Disease definition
A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.
ORPHA:293284
A summary on this disease is available in
Français,
Español,
Deutsch,
Italiano,
Nederlands
Polski,
Ελληνικά,
Русский
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Clinical practice guidelines
Disease review articles
Review article
Clinical genetics review
Genetic testing
Guidance for genetic testing
Patient-Centered Outcome Measures (PCOMs)
Access questionnaires assessing quality of life in this disease
(English)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (55)
- Clinical trial(s) (3)
- Biobank(s) (10)
- Registry(ies) (29)
- Network of experts (9)
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.