Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. There are three types of Tyrosinemia namely Type I Tyrosinemia, Type II Tyrosinemia and Type III Tyrosinemia. Some of the common signs and symptoms of Tyrosinemia include kidney and liver disturbances, and intellectual disability.
HOW IS TYROSINEMIA DIAGNOSED?
A General Physician diagnoses Tyrosinemia by examining the medical history of the patient and performing blood test, biopsy, CT scan, endoscopy and genetic testing.
HOW IS TYROSINEMIA TREATED?
The treatment for Tyrosinemia consists of placing the newborn baby with the defect on certain controlled diet to ensure the unwanted minerals are kept out and normal growth of the baby allowed to occur. Some medication may also be tried to supplement these efforts.