Tetrahydrobiopterin deficiency

Common Name(s)

Tetrahydrobiopterin deficiency, BH4 deficiency, BH4 deficient hyperphenylalaninemia

Tetrahydrobiopterin deficiency, also known as BH4 defiency, is a genetic condition. This condition results from a mutation or error in one of several genes (GCH1, PCBD1, PTS, or QDPR). The non-working (mutated) genes cause a deficiency in a protein called tetrahydrobiopterin or BH4. Lack of BH4 alters levels of several body substances including neurotransmitters (which transfer signals between cells and the brain) and phenylalanine (the building blocks of proteins). Infants with BH4 deficiency usually appear normal at birth, but symptoms can present themselves over time. These include intellectual disability, movement disorders, difficulty swallowing, seizures, and an inability to control body temperature. BH4 deficiencies can be treated with BH4 supplements (2-20mg/kg per day) or a diet to regulate blood phenylalanine concentration. Many babies are screened to see if they may be affected by BH4 deficiency at birth so treatment can begin early, but the conditions included in newborn screening vary by state by state. For more information, visit Baby's First Test.This condition is autosomal recessive which means an individual must have two copies of the non-workng (mutated) gene that causes the condition. A person with one non-working gene is a carrier of the condition but usually does not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tetrahydrobiopterin deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 11 free, full-text research articles on human participants. First 3 results:

Autophagy induction by tetrahydrobiopterin deficiency.
 

Author(s): Sang Su Kwak, Jinkyu Suk, Ji Hye Choi, Seungkyung Yang, Jin Woo Kim, Seonghyang Sohn, Jae Hoon Chung, Yong Hee Hong, Dong Hwan Lee, Jeong Keun Ahn, Hyesun Min, Ya-Min Fu, Gary G Meadows, Cheol O Joe

Journal: Autophagy. 2011 Nov;7(11):1323-34.

 

Tetrahydrobiopterin (BH₄) deficiency is a genetic disorder associated with a variety of metabolic syndromes such as phenylketonuria (PKU). In this article, the signaling pathway by which BH₄ deficiency inactivates mTORC1 leading to the activation of the autophagic pathway was ...

Last Updated: 2 Nov 2011

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Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
 

Author(s): Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz

Journal: J Pediatr (Rio J). ;87(3):245-51.

 

To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH).

Last Updated: 10 Jun 2011

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Queuosine deficiency in eukaryotes compromises tyrosine production through increased tetrahydrobiopterin oxidation.
 

Author(s): Tatsiana Rakovich, Coilin Boland, Ilana Bernstein, Vimbai M Chikwana, Dirk Iwata-Reuyl, Vincent P Kelly

Journal: J. Biol. Chem.. 2011 Jun;286(22):19354-63.

 

Queuosine is a modified pyrrolopyrimidine nucleoside found in the anticodon loop of transfer RNA acceptors for the amino acids tyrosine, asparagine, aspartic acid, and histidine. Because it is exclusively synthesized by bacteria, higher eukaryotes must salvage queuosine or its nucleobase ...

Last Updated: 30 May 2011

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Reviews from the PubMed Database

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The terms "Tetrahydrobiopterin deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
 

Status: Recruiting

Condition Summary: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency

 

Last Updated: 12 Aug 2014

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