What is Tyrosinemia and How Many Types Does it Have?

What is Tyrosinemia
and How Many Types
Does it Have?

Tyrosinemia is a rare genetic metabolic disorder characterized by impaired breakdown of tyrosine, which is one of the amino acids that make up proteins.
Proteins are essential nutrients and play important roles in the body.
There are 3 types of tyrosinemia, which are all inherited but differ from each other in the underlying cause and symptoms.
Tyrosinemia Type 2
This type of tyrosinemia is caused by a defect in the TAT gene and leads to serious effects on the eyes and the skin. Approximately 50% of individuals with type 2 tyrosinemia may experience different degrees of mental retardation. The worldwide incidence of tyrosinemia type 2 is 1/250,000.
Tyrosinemia Type 3
This type is very uncommon.
Hereditary Tyrosinemia Type 1
Tyrosinemia type 1 is the most serious form of tyrosinemia and is characterized by the signs and symptoms that manifest in the first few months of life.
Tyrosinemia type 1 may also be referred to as:
• Hereditary tyrosinemia type 1
• Fumarylacetoacetase deficiency
• Fumarylacetoacetate hydrolase deficiency
• Hepatorenal tyrosinemia