What is tyrosinemia?
Tyrosinemia is a serious genetic disorder caused by a lack of one of the enzymes needed to break tyrosine. A person with tyronSinemia has an abundance of amino acid tyrosine in the body. Without drugs, Tyrosin continues to accumulate in tissues and organs in the body, creating serious health complications. There are three types of this genetic disorder, each with different symptoms caused by a lack of specific enzyme in the body. Each type requires ongoing medical treatment. People of French-Canadian origin experience a higher risk of suffering from this particular condition. Children born in Finland and Norway are also at higher risk.
The disorder is diagnosed in infants and is characterized by the inability to gain weight, jaundice, diarrhea, vomiting, odor to remember cabbage and frequent bleeding. This particular type of tyrosinemia can cause kidney and liver failure. It can affect the nervous system, causing liver cirrhosis before age for six months, and can also lead to liver cancer. Children can without treatmentdie before they reach the age of 12 months.
type II tyrosinemia is another form of disorder characterized by insufficient amount of enzyme called tyrosine aminotransferase. Small children are diagnosed with a disorder that includes the following symptoms: sensitivity to light, tearing of the eyes, skin lesion, eye pain and redness in the eyes. Type II can even affect mental development.
type III tyrosinemia is a very rare condition characterized by impaired coordination and balance, slow mental development and seizures. This particular type is caused by the insufficient amount of the 4-hydroxyphenylpyruvate dioxygenate enzyme in the body. Gene defect for tyrosinemia has been passed for generations. Both parents of a child with tyrosinemia act as a carrier for a genetic disorder, but neither parent shows signs or symptoms of this particular condition.
When a child is diagnosed with a condition, doctors prescribe summerTo called NTBC, which helps to reverse the symptoms of disorder and food that contains reduced amounts of methionine, tyrosine and phenylalanine. This diet is prescribed to improve the child's health until the liver transplant can be performed. Liver transplantation is the only permanent treatment of this particular genetic disorder.