Tyrosinemia type 2 is a rare inherited metabolic disorder caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme is responsible for breaking down the amino acid tyrosine, which is essential for normal growth and development. Without this enzyme, tyrosine builds up in the body, leading to a variety of health problems. Symptoms of tyrosinemia type 2 include poor growth, liver and kidney problems, and an increased risk of certain types of cancer. Treatment typically involves a combination of dietary changes, medications, and supplements.

The symptoms of Tyrosinemia type 2 can vary from person to person, but may include:

-Poor growth
-Liver and kidney problems
-High levels of tyrosine in the blood
-High levels of ammonia in the blood
-Neurological problems, such as seizures, developmental delays, and intellectual disability
-Skin rashes
-Frequent infections
-Abdominal pain
-Vomiting
-Diarrhea
-Lethargy
-Loss of appetite
-Jaundice
-Enlarged spleen and/or liver

Tyrosinemia type 2 is caused by a genetic mutation in the FAH gene, which is responsible for producing the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme is responsible for breaking down the amino acid tyrosine, which is essential for normal metabolism. Without this enzyme, tyrosine builds up in the body, leading to the symptoms of tyrosinemia type 2.

The primary treatment for Tyrosinemia type 2 is a low-tyrosine and low-phenylalanine diet. This diet should be started as soon as possible after diagnosis and should be continued for life. Other treatments may include medications to reduce the levels of tyrosine and phenylalanine in the blood, supplements to replace essential vitamins and minerals, and liver transplantation in severe cases.

1. Genetic mutation in the FAH gene
2. Family history of Tyrosinemia type 2
3. Exposure to certain environmental toxins
4. Low levels of the enzyme fumarylacetoacetate hydrolase (FAH)
5. Low levels of the amino acid tyrosine in the blood
6. Low levels of the enzyme tyrosine aminotransferase (TAT)
7. Low levels of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD)
8. Low levels of the enzyme 4-hydroxyphenylpyruvate (HPP)
9. Low levels of the enzyme 4-hydroxyphenylacetate (HPA)
10. Low levels of the enzyme 4-hydroxyphenyl

Yes, there is a medication available for Tyrosinemia type 2. The medication is called Nitisinone and it helps to reduce the amount of tyrosine in the body. It is usually taken in combination with a low-protein diet and other treatments.