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ENTyrosinemia, Type I (TYRSN1)
Alias:
Tyrosinemia Type I
Hepatorenal Tyrosinemia
Fumarylacetoacetase Deficiency
Fah Deficiency
Fumarylacetoacetate Hydrolase Deficiency
Tyrosinemia Type 1
Tyrsn1
Fumarylacetoacetase
Tyrosinemia 1
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Tyrosinemia, Type I, also known as tyrosinemia type i, is related to glycine n-methyltransferase deficiency and tyrosinemia. An important gene associated with Tyrosinemia, Type I is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Liver and kidney, and related phenotypes are generalized aminoaciduria and splenomegaly
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