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
NORD: Tyrosinemia, Hereditary
Offers the synonyms, a general discussion and further resources.
Factsheet on this disorder of tyrosine metabolism, its description, epidemiology, presentation, differential diagnosis, investigations, associated diseases, management, complications, prognosis and prevention.
Last update:September 25, 2015 at 18:04:22 UTC