Phenylalanine metabolism

Stable Identifier
R-HSA-8964208
Type
Pathway
Species
Homo sapiens
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The first reaction in this pathway converts phenylalanine to tyrosine, coupled to the conversion of tetrahydrobiopterin to 4a-hydroxytetrahydrobiopterin, catalyzed by phenylalanine hydroxylase. Deficiencies in this enzyme are responsible for the commonest form of phenylketonuria (PKU) in humans. This reaction functions both as the first step in the pathway by which the body disposes of excess phenylalanine, and as a source of the amino acid tyrosine. The next two reactions are responsible for the regeneration of tetrahydrobiopterin from 4a-hydroxytetrahydrobiopterin (Blau et al. 2001).

Literature References
PubMed ID Title Journal Year
  The Metabolic and Molecular Bases of Inherited Disease, 8th ed

Scriver, CR, Beaudet, AL, Valle, D, Sly, WS

  2001
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