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Pathway Description
Phenylketonuria
Homo sapiens
Disease Pathway
Phenylketonuria, also called Folling disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that affects the proper processing of phenylalanine caused by a defective phenylalanine hydroxylase. Phenylalanine hydroxylase breaks down phenylalanine from the diet. This disorder is characterized by a large accumulation of phenylalanine in the blood and other tissues. Symptoms of the disorder include behavioural problems, psychiatric disorders and seizures. Treatment eating a diet limiting the intake of phenylalanine is very effective. It is estimated that phenylketonuria affects 1 in 15,000 individuals in the United States.
References
Phenylketonuria References
[Uniprot: P00439](http://www.uniprot.org/uniprot/P00439)
[OMIM: Entry 261600](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.80 Heilbronn: SPS Verlagsgesellschaft
Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U: Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5.
Pubmed: 8828601
Eisensmith RC, Woo SL: Gene therapy for phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S16-9.
Pubmed: 8828602
Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT: "Hypotyrosinemia" in phenylketonuria. Mol Genet Metab. 2000 Apr;69(4):286-94. doi: 10.1006/mgme.2000.2985.
Pubmed: 10870846
Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J: Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet. 1991 Feb;86(4):411-3.
Pubmed: 1671852
Sumaily KM, Mujamammi AH: Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies. Int J Health Sci (Qassim). 2017 Nov-Dec;11(5):63-70.
Pubmed: 29114196
Phenylalanine and Tyrosine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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