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Pathway Description
Tyrosinemia Type 3 (TYRO3)
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-11-01
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)
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Phenylalanine and Tyrosine Metabolism References
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Pubmed: 10049785
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