Site of parents of children with tyrosinemia
Tyrosinemia. What is it?

Tyrosinemia - a rare genetic disease in which the body is unable to metabolize the amino acid "tyrosine", which enters the human body with food.

In the body, this amino acid can not be split due to the absence of a special enzyme, resulting in tyrosine accumulates in the body and damages internal organs (kidney, liver), and the nervous system suffers. In humans, the patient tyrosinemia, the body lack the enzyme "fumarilatsetoatsetatgidroksilaza" (or FAH), which breaks down tyrosine.

The first affected organ is the liver, during the first months of life are marked initial symptoms of liver dysfunction with long-term outcomes in cirrhosis and liver carcinoma. As a rule, there is damage to the tubular transport of developing severe rickets because of the loss of phosphates. Some patients developing nephrocalcinosis and renal failure.

Tyrosinemia is of three types: tyrosinemia type 1 tyrosinemia type 2 and type 3 tyrosinemia. This site is devoted tyrosinemia type 1.