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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.
Pterin-4 alpha-carbinolamine dehydratase deficiency (PCDD) is one of the known forms of tetrahydrobiopterin deficiency. This condition is associated with mutations of the PCBD1 gene. As of 2020, PCDD was the rarest form of BH4 deficiency in terms of cases described in medical literature.
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 ...
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 ...
This is caused by low levels of tyrosine, whose metabolic pathway is blocked by deficiency of PAH. Another skin alteration that might occur is the presence of irritation or dermatitis. The child's behaviour may be influenced as well due to augmented levels of phenethylamine which in turn affects levels of other amines in the brain.
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6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. [2] It is a recessive disorder that is accompanied by hyperphenylalaninemia .