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).

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In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca 2+ channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca 2+ release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad.

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 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 ...

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) 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).

Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time.

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).

Feb 3, 2020 · Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet.