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• W2040895887 abstract "The human phenylalanine hydroxylase gene (PAH) (locus on human chromosome 12q24.1) contains the expressed nucleotide sequence which encodes the hepatic enzyme phenylalanine hydroxylase (PheOH). The PheOH enzyme hydroxylates the essential amino acid l-phenylalanine resulting in another amino acid, tyrosine. This is the major pathway for catabolizing dietary l-phenylalanine and accounts for approximately 75% of the disposal of this amino acid. The autosomal recessive disease phenylketonuria (PKU) is the result of a deficiency of PheOH enzymatic activity due to mutations in the PAH gene. Of the mutant alleles that cause hyperphenylalaninemia or PKU 99% map to the PAH gene. The remaining 1% maps to several genes that encode enzymes involved in the biosynthesis or regeneration of the cofactor ((6R)-l-erythro-5,6,7,8-tetrahydrobiopterin) regenerating the cofactor (tetrahydrobiopterin) necessary for the hydroxylation reaction. The recently solved crystal structures of human phenylalanine hydroxylase provide a structural scaffold for explaining the effects of some of the mutations in the PAH gene and suggest future biochemical studies that may increase our understanding of the PKU mutations." @default.
• W2040895887 created "2016-06-24" @default.
• W2040895887 creator A5017648766 @default.
• W2040895887 creator A5059516347 @default.
• W2040895887 date "1999-10-01" @default.
• W2040895887 modified "2023-10-16" @default.
• W2040895887 title "The Structural Basis of Phenylketonuria" @default.
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• W2040895887 doi "https://doi.org/10.1006/mgme.1999.2922" @default.
• W2040895887 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10527663" @default.
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