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Pathway Description
Tyrosinemia Type I
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-10-27
Tyrosinemia type I, also known as fumarylacetoacetase or FAH deficiency, is the most severe type of tyrosinemia, a buildup of tyrosine in the body. It is caused by an autosomal recessive mutation in the the FAH gene that encodes for fumarylacetoacetase, an enzyme that is responsible for the last of five steps that are involved in the metabolic breakdown of tyrosine in the liver and kidneys. The lack of this enzyme's function leads to a buildup of 4-fumarylacetoacetic acid as it couldn't be broken down to fumaric acid and acetoacetic acid. This also leads to an increased concentration of maleylacetoacetic acid. This eventually leads to the increased concentration of L-tyrosine in the body. Symptoms of tyrosinemia type I include jaundice and an enlarged liver, kidney dysfunction, as well as a failure to grow, as foods with high protein and amino acids lead to increased symptoms. Additionally, individuals are more at risk for future liver cancer.
References
Tyrosinemia Type I References
[Uniprot: P16930](http://www.uniprot.org/uniprot/P16930)
[OMIM: Entry 276700](https://www.omim.org/entry/276700)
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Sniderman King L, Trahms C, Scott CR: Tyrosinemia Type I
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Tyrosine Metabolism References
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