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Pathway Description
Tyrosinemia Type 3 (TYRO3)
Homo sapiens
Disease Pathway
Tyrosinemia type 3, one of the three types of tyrosinemia, is a rare disorder with only a few reported cases. Tyrosinemia type 3 results from a defect in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. 4-Hydroxyphenylpyruvate dioxygenase plays a role in the catabolism of tyrosine by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A defect in this enzyme causes tyrosine and phenylalanine to accumulate in the blood resulting in increased excretion of tyrosine in the urine. Tyrosinemia type 3 symptoms include: seizures, mental retardation and intermittent ataxia (occasional loss of balance and coordination).
References
Tyrosinemia Type 3 (TYRO3) References
[Uniprot: P32754](http://www.uniprot.org/uniprot/P32754)
[OMIM](http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tyrosinemia)
Cerone R, Holme E, Schiaffino MC, Caruso U, Maritano L, Romano C: Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediatr. 1997 Sep;86(9):1013-5.
Pubmed: 9343288
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV: Outcome of tyrosinaemia type III. J Inherit Metab Dis. 2001 Dec;24(8):824-32.
Pubmed: 11916315
Endo F, Kitano A, Uehara I, Nagata N, Matsuda I, Shinka T, Kuhara T, Matsumoto I: Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia. Pediatr Res. 1983 Feb;17(2):92-6. doi: 10.1203/00006450-198302000-00002.
Pubmed: 6828337
Endo F: [Hereditary tyrosinemia type III]. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):137-40.
Pubmed: 9590008
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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