What is "tyrosinemia"

n. (context medicine English) A metabolic disorder characterized by the presence of excess tyrosine in the blood

n. autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and intellectual disability. Untreated, tyrosinemia can be fatal.

Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).