How do you test for BH4 deficiency?
Molecular genetic testing can confirm a diagnosis of these disorders. Molecular genetic testing can detect mutations in the specific genes known to cause tetrahydrobiopterin deficiency. The test is often expensive and often not necessary to confirm a diagnosis of a disorder of tetrahydrobiopterin deficiency.
How is BH4 deficiency treated?
Treatment of BH4 deficiencies consists of BH4 supplementation (2-20 mg/kg per day) or diet to control blood phenylalanine concentration and replacement therapy with neurotransmitters precausers (L-dopa/CarbiDOPA and 5-hydroxytryptophan), and supplements of folinic acid in DHPR deficiency.
What is BH4 deficiency?
Tetrahydrobiopterin (BH4) deficiency causes the body to build up an abnormally high level of phenylalanine, one of the building blocks of proteins. In addition, BH4 deficiency leads to low levels of certain neurotransmitters, chemical messengers that control many body functions.
What causes Tetrahydrobiopterin?
Tetrahydrobiopterin is biosynthesized from guanosine triphosphate (GTP) by three chemical reactions mediated by the enzymes GTP cyclohydrolase I (GTPCH), 6-pyruvoyltetrahydropterin synthase (PTPS), and sepiapterin reductase (SR).
How can I increase my BH4 level?
Folate enhances the binding of BH4 to NOS through a pteridine-binding domain and then 5-methyltetrahydrofolate facilitates the electron transfer by BH4 from the NOS reductase domain to the heme. Therefore, folic acid (FA) enhances the chemical synthesis and stabilization of BH4 (2).
Is BH4 deficiency the same as PKU?
BH4 deficiency is also associated with augmented inflammation and retinal microvascular degeneration. BH4 deficiencies are grouped with phenylketonuria (PKU), which is an inborn error of protein metabolism that results from an impaired ability to metabolize the essential amino acid Phe.
Is BH4 a vitamin?
Tetrahydrobiopterin (BH4) is an essential cofactor of nitric oxide synthase (NOS) and aromatic amino acid hydroxylases. BH4 and 7,8-dihydrobiopterin (BH2) are metabolically interchangeable at the expense of NADPH. Exogenously administered BH4 can be metabolized by the body, similar to vitamins.
What does BH4 do in the body?
In the body, the PAH enzyme converts Phe into tyrosine in the presence of tetrahydrobiopterin (BH4). BH4 is a natural substance found in the body that helps the PAH enzyme reduce Phe to safe levels in the blood.
What is the role of tetrahydrobiopterin?
Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, which are essential in the formation of neurotransmitters, and for nitric oxide synthase. It is presently used clinically to treat some forms of phenylketonuria (PKU) that can be ameliorated by BH4 supplementation.
Does Royal Jelly increase BH4?
Royal Jelly has been included for its naturally occurring BH4. Lithium has been noted in clinical research to increase BH4 levels. This product pairs well with SER Accelerator or 5-HTP.
How can I get more BH4?
Rather, studies have shown that MTHF supplementation can increase BH4 levels by preventing its oxidation into BH2 and by supplementing BH4 activity with NOS enzymes further preventing its degradation.
What is BH4 vitamin?