Tyrosinemia type 3 is a rare inherited metabolic disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD). 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. Symptoms of tyrosinemia type 3 can include poor growth, liver and kidney problems, and neurological issues. Treatment typically involves a low-tyrosine diet and medications to help reduce the levels of tyrosine in the body.

The symptoms of Tyrosinemia type 3 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
-Abnormal facial features
-Eye problems, such as cataracts
-Hearing loss
-Heart problems
-Bone and joint problems
-Gastrointestinal problems, such as constipation and diarrhea

Tyrosinemia type 3 is caused by mutations in the FAH gene, which is responsible for producing the enzyme fumarylacetoacetate hydrolase (FAH). Mutations in this gene lead to a deficiency of FAH, which in turn causes an accumulation of toxic metabolites in the body, leading to the symptoms of Tyrosinemia type 3.

The primary treatment for Tyrosinemia type 3 is a low-tyrosine and low-phenylalanine diet. This diet should be supplemented with essential amino acids, vitamins, and minerals. Other treatments may include medications to reduce the production of tyrosine and phenylalanine, as well as medications to reduce the levels of tyrosine and phenylalanine in the blood. In some cases, liver transplantation may be necessary.

1. Genetic mutation: Tyrosinemia type 3 is caused by a genetic mutation in the FAH gene, which is responsible for the production of the enzyme fumarylacetoacetate hydrolase (FAH).

2. Family history: Tyrosinemia type 3 is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Ethnicity: Tyrosinemia type 3 is more common in certain ethnic groups, such as people of Mediterranean, Middle Eastern, and North African descent.

4. Age: Tyrosinemia type 3 is more common in infants and young children.

At this time, there is no cure for Tyrosinemia type 3. However, there are medications available to help manage the symptoms. These medications include Nitisinone, which helps reduce the amount of tyrosine in the body, and Vitamin B6, which helps reduce the amount of tyrosine in the urine. Additionally, a low-tyrosine diet may be recommended to help reduce the amount of tyrosine in the body.