Chapter 13. Phenylalanine Hydroxylase


Weronika Pawelic, David Aebisher and Dorota Bartusik-Aebisher
Medical College of The University of Rzeszów, Poland

Part of the book: The Biochemical Guide to Enzymes


Phenylalanine hydroxylase is a liver enzyme protein that belongs to the class of hydrolases, which means that they break chemical bonds when exposed to water. The mentioned enzyme catalyses the reaction of conversion of one amino acid (L-phenylalanine) into another (L-tyrosine). More precisely, this reaction consists in the addition of the – OH group to the carbon at the 4-position of the tyrosine.

Keywords: phenylalanine hydroxylase, exogenous, enzyme


Kure S, Shintaku H. Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.
J. Hum. Genet. 2019 Feb;64(2):67-71.
Regier D S, Greene C L. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [updated
2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp
KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):
University of Washington, Seattle; 1993–2021. PMID: 20301677.
Rink B, Dukhovny S, Timofrev J. Management of Women With Phenylalanine
Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
Obstet. Gynecol. 2020 Apr;135(4):e167-e170.
Stone WL, Basit H, Los E. Phenylketonuria. 2021 Aug 11. In: StatPearls [Internet].
Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 30570999.
van Wegberg A M J, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A M,
Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S C, Kearney S, Leuzzi V,
Maillot F, Muntau A C, van Rijn M, Trefz F, Walter J H, van Spronsen F J. The
complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet. J. Rare Dis. 2017 Oct 12;12(1):162.


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