FAH

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq]

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Arginine catabolic process Source: Ensembl
Homogentisate catabolic process Source: GO_Central
L-phenylalanine catabolic process Source: GO_Central
Tyrosine catabolic process Source: GO_Central

Cytosol; Extracellular exosome

Tyrosinemia 1 (TYRSN1):
An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.