What is Tyrosinemia?
• Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver. • Tyrosinemia: autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation. Source – WordNet 2.1 Tyrosinemia is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tyrosinemia, or a subtype of Tyrosinemia, affects less than 200,000 people in the US population.
