Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4).

DHPR may refer to: 6,7-dihydropteridine reductase, an enzyme; dihydropyridine receptor, a calcium channel

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.

Dihydropteridine reductase (DHPR) deficiency is a genetic disorder of tetrahydrobiopterin (BH4) regeneration and may present with hyperphenylalaninemia, microcephaly, hypotonia, mental retardation, and convulsions.

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures ...

2023年8月10日 · In DHPR deficiency, biopterin is highly elevated and neopterin is normal or slightly elevated, but in some patients both metabolites can be normal (see below). In PCD deficiency, neopterin is initially very high, biopterin is slightly reduced, and primapterin (7-biopterin) is present.

Dihydropteridine reductase (DHPR) is an enzyme essential for the regeneration of tetrahydrobiopterin, itself a co-factor necessary for the hydroxylation reactions in the brain leading to the synthesis of tyrosine, dopa, noradrenaline and 5-hydroxytryptophan (Fig. 1). DHPR salvages the unstable quinonoid dihydrobiopterin, converting it back to ...

DHPR deficiency is caused by variants in the QDPR gene, which encodes quinoid dihydropteridine reductase involved in the second step of BH4 regeneration. BH4 is an essential cofactor for phenylalanine hydroxylase (PAH), tyrosine (TH) and tryptophan hydroxylase (TPH).

2023年6月20日 · Dihydropteridine reductase (DHPR) deficiency is a rare autosomal recessive disorder (meaning that affected individuals inherit two copies of the mutated gene, one from each parent). It is caused by mutations in the QDPR gene, which provides instructions for making the enzyme dihydropteridine reductase (DHPR)

2018年5月7日 · Dihydropteridine Reductase Deficiency Disorder (DHPR Deficiency Disorder) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4)