Tetrahydrobiopterin deficiency
Common Name(s)
Tetrahydrobiopterin deficiency, BH4 deficiency, BH4 deficient hyperphenylalaninemia
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Tetrahydrobiopterin deficiency" for support, advocacy or research.
The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.
Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Tetrahydrobiopterin deficiency" for support, advocacy or research.
The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.
http://www.thearc.orgClimb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.
http://www.climb.org.uk/Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Tetrahydrobiopterin deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tetrahydrobiopterin deficiency" returned 16 free, full-text research articles on human participants.
First 3 results:
Journal:
Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine ...
Journal:
Vitamin C (vitC) deficiency is associated with increased cardiovascular disease risk, but its specific interplay with arteriolar function is unclear. This study investigates the effect of vitC deficiency in guinea pigs on plasma biopterin status and the vasomotor responses in coronary ...
Journal: Eur. J. Paediatr. Neurol.. 2016 Nov;20(6):839-842.
Tetrahydrobiopterin (BH) deficiencies are inherited neuro-metabolic disorders leading to monoamine neurotransmitters deficiency. An individualized replacement therapy with neurotransmitters precursors is necessary to restore dopaminergic and serotoninergic homeostasis. The correction ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tetrahydrobiopterin deficiency" returned 0 free, full-text review articles on human participants.
No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Tetrahydrobiopterin deficiency".
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/PCBD1
https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency
https://ghr.nlm.nih.gov/gene/PTS
https://ghr.nlm.nih.gov/gene/QDPR
https://ghr.nlm.nih.gov/gene/GCH1
https://ghr.nlm.nih.gov/gene/SPR
https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia
https://ghr.nlm.nih.gov/gene/PAH
https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency
https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria
https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency
https://ghr.nlm.nih.gov/condition/factor-v-deficiency
https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency
https://ghr.nlm.nih.gov/condition/clpb-deficiency
https://ghr.nlm.nih.gov/condition/trnt1-deficiency
https://ghr.nlm.nih.gov/condition/arginase-deficiency
https://ghr.nlm.nih.gov/condition/acad9-deficiency
https://ghr.nlm.nih.gov/condition/aromatase-deficiency
https://ghr.nlm.nih.gov/condition/fumarase-deficiency
There are currently no related results available in GeneReviews.
There are currently no related results available in Genetic Testing Registry.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.

Finding the right clinical trial for Tetrahydrobiopterin deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.