Tyrosinemia Type 1 is an inherited 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 serious health problems. Symptoms of Tyrosinemia Type 1 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 liver transplantation.

The symptoms of Tyrosinemia Type 1 can vary from person to person, but may include:

-Poor growth
-Liver and kidney problems
-High levels of tyrosine and other amino acids in the blood
-High levels of ammonia in the blood
-Neurological problems, such as seizures, developmental delays, and intellectual disability
-Skin rashes
-Gastrointestinal problems, such as vomiting, diarrhea, and constipation
-A musty body odor
-A sweet smell to the urine
-Lethargy and fatigue
-Loss of appetite
-Jaundice (yellowing of the skin and eyes)
-Enlarged spleen and/or liver

Tyrosinemia Type 1 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 found in many foods. Without this enzyme, tyrosine builds up in the body and can cause serious health problems.

The primary treatment for Tyrosinemia Type 1 is a low-tyrosine, low-phenylalanine diet. This diet should be started as soon as possible after diagnosis and should be continued for life. Additionally, a medication called Nitisinone is used to reduce the amount of tyrosine and phenylalanine in the body. Other treatments may include vitamin and mineral supplements, liver transplantation, and dialysis.

1. Family history of Tyrosinemia Type 1
2. Genetic mutation in the FAH gene
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 cure for Tyrosinemia Type 1. The treatment involves a low-tyrosine and low-phenylalanine diet, as well as medications such as nitisinone and alpha-methyl-dopa. These medications help to reduce the amount of tyrosine and phenylalanine in the body, which can help to reduce the symptoms of Tyrosinemia Type 1.