dihidropteridinreduktáz

Dihydropteridine reductase, often abbreviated as DHPR, is an enzyme encoded by the QDPR gene in humans. This enzyme plays a crucial role in the metabolism of tetrahydrobiopterin (BH4), a vital cofactor for several important enzymes. Specifically, DHPR catalyzes the reduction of dihydrobiopterin (BH2) to BH4. BH4 is essential for the activity of aromatic amino acid hydroxylases, which are involved in the synthesis of neurotransmitters like dopamine and serotonin, as well as for nitric oxide synthase, which produces nitric oxide.

The activity of DHPR is critical for maintaining adequate levels of BH4. Deficiency in DHPR activity can lead to a condition known as dihydropteridine reductase deficiency, a form of phenylketonuria (PKU). Individuals with DHPR deficiency often present with neurological symptoms due to the impaired synthesis of neurotransmitters. Treatment typically involves BH4 supplementation, which can help restore the enzyme's function and alleviate symptoms. Research into DHPR continues to explore its precise mechanisms and potential therapeutic applications.