A rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine.
Related categories 2
Sites 2
- NORD: Tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources.
- Patient: Tyrosinaemia Factsheet on this disorder of tyrosine metabolism, its description, epidemiology, presentation, differential diagnosis, investigations, associated diseases, management, complications, prognosis and prevention.