FAQ

phenylalanine 4-monooxygenase activity

Known as: phenylalaninase activity, L-phenylalanine,tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), PAH activity 
Catalysis of the reaction: L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4-alpha-hydroxytetrahydrobiopterin. [EC:1.14.16.1]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1962-2018
051019622018

Related topics

Related topics

1 relation
Phenylalanine Hydroxylase

Related mentions per year

Related mentions per year

1954-2018
1960198020002020
phenylalanine 4-monooxygenase activity
Phenylalanine Hydroxylase

Papers overview

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Highly Cited
2008
Highly Cited
2008
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in phenylalanine hydroxylase (PAH). Over 500 disease… (More)
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2008
2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH(4))-responsive… (More)
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Highly Cited
2007
Highly Cited
2007
Meta-Analysis of Neuropsychological Symptoms of Adolescents and Adults with PKU
Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive inborn error of phenylanaline metabolism. PKU is characterized by… (More)
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2006
2006
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria
Novel recombinant adeno-associated virus vectors pseudotyped with serotype 8 capsid (rAAV2/8) have recently shown exciting… (More)
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2006
2006
Investigation of oxidative stress parameters in treated phenylketonuric patients
Phenylketonuria (PKU) is the most frequent disturbance of amino acid metabolism being caused by severe deficiency of… (More)
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2004
2004
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has… (More)
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2004
2004
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as… (More)
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2004
2004
Biopterin responsive phenylalanine hydroxylase deficiency
Purpose: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene… (More)
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1997
1997
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.
To determine if there is abnormal phenylalanine and biopterin metabolism in patients with dopa-responsive dystonia (DRD), we… (More)
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1990
1990
Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase.
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… (More)
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