Phenylketonuria

George C‐T Jiang, Wake Forest University School of Medicine, Winston‐Salem, North Carolina, USA
George J Yohrling IV, Wake Forest University School of Medicine, Winston‐Salem, North Carolina, USA
Kent E Vrana, Wake Forest University School of Medicine, Winston‐Salem, North Carolina, USA

Published online: April 2001

DOI: 10.1038/npg.els.0002006

Phenylketonuria is an autosomal recessive metabolic disorder resulting in increased phenylalanine concentrations. This treatable condition is a leading cause of mental retardation.

Keywords: PKU; metabolic disorder; hyperphenylalaninaemia; phenylalanine hydroxylase

Figure 1. Phenylalanine metabolism. Phenylalanine hydroxylase (PH) catalyses the conversion of phenylalanine to tyrosine. Deficiencies in the activity of this enzyme result in incomplete phenylalanine metabolism and build-up of toxic waste products. BH4, tetrahydrobiopterin; q-BH2, quinonoid dihydrobiopterin; GTP, guanosine triphosphate.
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 Further Reading
    book Bremer HJ, Duran D, Kamerling JP, Przyrembel H and Wadman SK (eds) (1981) Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis, pp. 307–327. Baltimore, MD: Urban & Schwarzenberg. [Chapter on clinical chemistry and diagnosis of inherited diseases.]
    Eisensmith RC and Woo SLC (1995) Molecular genetics of phenylketonuria: from molecular anthropology to gene therapy. Advances in Genetics 32: 199–271.
    Hoang L, Byck S, Prevost L and Scriver CR (1996) PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Research 24(1): 127–131.
    book Kaufman S (1997) Tetrahydrobiopterin, pp. 262–322. Baltimore, MD: Johns Hopkins University Press. [Chapter on phenylketonuria and its variants.]
    Nowacki PM, Byck S, Prevost L and Scriver CR (1997) The PAH Mutation Analysis Consortium Database update 1996. Nucleic Acids Research 25(1): 139–142.
    book Wurtman R and Ritter-Walker E (1988) Dietary Phenylalanine and Brain Function. Boston, MA: Birthäuser.

Related Sub-Topics:

Genetics of Intelligence and Cognition | Specific Genetic Disorders | Other Biomolecules: Structure, Function, Metabolism
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Article Title: Phenylketonuria
 
How to Cite close
Jiang, George C‐T, IV, George J Yohrling, and Vrana, Kent E(Apr 2001) Phenylketonuria. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002006]