Phenylalanine Hydroxylase

"Phenylalanine Hydroxylase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.

Descriptor ID

D010651

MeSH Number(s)

D08.811.682.690.708.601

Concept/Terms

Phenylalanine Hydroxylase

Below are MeSH descriptors whose meaning is more general than "Phenylalanine Hydroxylase".

Chemicals and Drugs [D]
Enzymes and Coenzymes [D08]
Enzymes [D08.811]
Oxidoreductases [D08.811.682]
Oxygenases [D08.811.682.690]
Mixed Function Oxygenases [D08.811.682.690.708]
Phenylalanine Hydroxylase [D08.811.682.690.708.601]

Below are MeSH descriptors whose meaning is related to "Phenylalanine Hydroxylase".

Below are MeSH descriptors whose meaning is more specific than "Phenylalanine Hydroxylase".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Phenylalanine Hydroxylase" by people in Harvard Catalyst Profiles by year, and whether "Phenylalanine Hydroxylase" was a major or minor topic of these publication.

Bar chart showing 17 publications over 15 distinct years, with a maximum of 2 publications in 2009 and 2012

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1995	1	0	1
1996	1	0	1
2002	0	1	1
2003	1	0	1
2004	0	1	1
2007	1	0	1
2009	2	0	2
2010	1	0	1
2012	2	0	2
2013	1	0	1
2016	1	0	1
2017	0	1	1
2018	1	0	1
2019	1	0	1
2020	0	1	1

Below are the most recent publications written about "Phenylalanine Hydroxylase" by people in Profiles.

The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 08 06; 107(2):234-250.

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Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421.

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Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol Genet Metab. 2018 11; 125(3):228-234.

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Am J Hum Genet. 2017 02 02; 100(2):257-266.

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Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. Mol Genet Metab. 2016 Mar; 117(3):328-35.

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Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat. 2013 Jul; 34(7):927-36.

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Processing speed and executive abilities in children with phenylketonuria. Neuropsychology. 2012 Nov; 26(6):735-43.

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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. Mol Genet Metab. 2012 Aug; 106(4):403-11.

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Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Mol Genet Metab. 2012 Apr; 105(4):559-65.

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Identification of phenylalanine 3-hydroxylase for meta-tyrosine biosynthesis. Biochemistry. 2011 Jun 21; 50(24):5401-3.

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