Tags: Disease.
Type III tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) encoded by the gene HPD. This enzyme is abundant in the liver and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid.
