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Diseases List


Tyrosinemia

Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is caused by the shortage (deficiency) of one of the enzymes required for the multistep process that breaks down tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which leads to serious medical problems.

Associated Genes

Gene Name Chromosome number BMRB EntriesPDB Entries
HPD 12 PDB Entries
FAH 15 BMRB Entries
TAT 16 PDB Entries