Tyrosinemia is a genetic disease caused by a deficiency of enzymes needed to break down tyrosine, resulting in an overabundance of the amino acid in the body. There are three types, each requiring ongoing medical treatment. Type I is the most severe and can cause liver and kidney failure, nervous system damage, and even liver cancer. Treatment includes medication and a special diet, with liver transplants being the only permanent solution.
Tyrosinemia is a serious genetic disease caused by a deficiency of one of the enzymes needed to break down tyrosine. A person with tyrosinemia has an overabundance of the amino acid tyrosine in the body. Without medication, tyrosine in the body continues to build up in the tissues and organs, thus creating serious health complications. There are three types of this genetic disease, each with varying symptoms caused by a deficiency of a specific enzyme within the body. Each type requires ongoing medical treatment.
Type I tyrosinemia is the most severe form of the genetic disease and is caused by the absence of the enzyme fumarylacetoacetate hydrolase. People of French-Canadian descent have a higher risk of suffering from this particular condition. Babies born in Finland and Norway are also at an increased risk.
The disorder is diagnosed in newborns and is characterized by an inability to gain weight, jaundice, diarrhea, vomiting, a cabbage-like odor, and frequent bleeding. This particular type of tyrosinemia can cause kidney and liver failure. It can affect the nervous system, cause cirrhosis of the liver before six months of age, and can even lead to liver cancer. Without treatment, babies can die before they reach the age of 12 months.
Type II tyrosinemia is another form of the disease characterized by a deficient amount of the enzyme called tyrosine aminotransferase. Young children are diagnosed with the disorder which includes the following symptoms: sensitivity to light, watery eyes, skin lesions, eye pain, and eye redness. Type II can even affect mental development.
Type III tyrosinemia is an extremely rare condition characterized by impaired coordination and balance, slow mental development, and seizures. This particular type is caused by insufficient amounts of the enzyme 4-hydroxyphenylpyruvate dioxygenase in the body. The genetic defect of tyrosinemia is passed down from generation to generation. Both parents of a child with tyrosinemia act as carriers of the genetic disease, but neither will show signs or symptoms of this particular condition.
When a child is diagnosed with the condition, doctors prescribe a drug called NTBC that helps reverse symptoms of the disorder, and a diet that contains reduced amounts of methionine, tyrosine, and phenylalanine. This diet is prescribed to improve the child’s health until a liver transplant can be performed. Liver transplants are the only permanent treatment for this particular genetic disease.
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