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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 ...
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.
The Blalock–Thomas–Taussig shunt (BTT shunt), [1] previously known as the Blalock–Taussig Shunt (BT shunt), [2] is a surgical procedure used to increase blood flow to the lungs in some forms of congenital heart disease [3] such as pulmonary atresia and tetralogy of Fallot, which are common causes of blue baby syndrome. [3]
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.
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.
110391 Ensembl ENSG00000151552 ENSMUSG00000015806 UniProt P09417 Q8BVI4 RefSeq (mRNA) NM_000320 NM_001306140 NM_024236 RefSeq (protein) NP_000311 NP_001293069 NP_077198 Location (UCSC) Chr 4: 17.46 – 17.51 Mb Chr 5: 45.59 – 45.61 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid ...
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.
Ball-and-stick model of the tetrahydroborate anion, [BH 4] −. Borohydride refers to the anion [B H 4] −, which is also called tetrahydridoborate, and its salts. [1] Borohydride or hydroborate is also the term used for compounds containing [BH 4−n X n] −, where n is an integer from 0 to 3, for example cyanoborohydride or cyanotrihydroborate [BH 3 (CN)] − and triethylborohydride or ...