Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
Homo sapiens
Disease Pathway
Hyperphenylalaninemia is the high presence of phenylalanine in the system/blood caused by a genetic mutation. In this case a missense error in the gene which encodes GTP cyclohydrolase. Consequently, this form of hyperphenylalaninemia is also called GTP cyclohydrolase I deficiency and/or dopa-responsive dystonia. It is an autosomal recessive mutation.
The mutation results in a reduction in the production of BH4 which is a necessary component in the reaction which transforms phenylalanine to other products in the body.
Common symptoms include: abnormality of eye mpvement, choreoathetosis, dysphagia, dystonia, excessive salivation, hypekinesis, lethargy, limb hyptertonia, seizures, tremor, among others.
References
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency References
[Metagen: HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=355)
[OMIM: 233910](http://omim.org/entry/233910})
Hwu WL, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM: Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. Hum Genet. 1999 Sep;105(3):226-30.
Pubmed: 10987649
Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB: A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J Pediatr. 1995 Mar;126(3):401-5.
Pubmed: 7869202
Coskun T, Karagoz T, Kalkanoglu S, Tokatli A, Ozalp I, Thony B, Blau N: Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. Turk J Pediatr. 1999 Apr-Jun;41(2):231-7.
Pubmed: 10770663
Pterine Biosynthesis 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.
Thony B, Auerbach G, Blau N: Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J. 2000 Apr 1;347 Pt 1:1-16.
Pubmed: 10727395
Longo N: Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub 2009 Feb 9.
Pubmed: 19234759
Crabtree MJ, Channon KM: Synthesis and recycling of tetrahydrobiopterin in endothelial function and vascular disease. Nitric Oxide. 2011 Aug 1;25(2):81-8. doi: 10.1016/j.niox.2011.04.004. Epub 2011 Apr 22.
Pubmed: 21550412
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings