Hereditary Tyrosinemia Type 1

Hereditary Tyrosinemia
Type 1

The incidence
The incidence of tyrosinemia type 1 is 1/100,000 worldwide, with 1/60,000-74,000 in Norway and 1/16,000 in Quebec, Canada.
Since there is no national screening program for tyrosinemia in India and Turkey, the actual incidence remains unknown but is estimated to be high.
Hereditary Tyrosinemia Type 1
Hereditary Tyrosinemia Type 1 is the most common type that manifests with signs and symptoms in the first few months of life. It is a genetic disorder that occurs as a result of disruptions in the multi-stage breakdown process of an amino acid called tyrosine, which is one of the building blocks of several proteins. Tyrosine is found in many foods, including breast milk and baby formulas.
This condition develops due the deficiency of the enzyme FAH (fumarylacetoacetate hydrolase), which is needed for the breakdown of the amino acid tyrosine taken from dietary proteins into substances that are not harmful to the body.
Tyrosinemia Type 1, which usually shows symptoms in the neonatal period and childhood, causes serious problems in tissues and organs if not diagnosed and treated at an early stage.