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Tetrahydrobiopterin (BH 4, THB), also known as sapropterin (INN), [5] [6] is a cofactor of the three aromatic amino acid hydroxylase enzymes, [7] used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the ...
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal recessive pattern. It is one of the six known disorders causing tetrahydrobiopterin deficiency , and occurs in patients with mutations of the QDPR gene.
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BH4 is the principal active cofactor. BH4 synthesis occurs through two principal pathways; the de novo pathway involves three enzymatic steps and proceeds from GTP, while the salvage pathway converts sepiapterin to BH4 using dihydrofolate reductase. [4] In addition, BH2 is recycled to BH4 by dihydrobiopterin reductase.
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Pterin-4 alpha-carbinolamine dehydratase deficiency causes hyperphenylalaninemia and therefore can be suspected upon finding elevated levels of phenylalanine. To distinguish it from other forms of BH4 deficiency, further analyses are made.
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