What is Tyrosinemia Type I

Tyrosinemia Type I is a rare genetic disorder that affects the body's ability to break down the amino acid tyrosine. This condition is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), which is necessary for the normal breakdown of tyrosine. As a result, toxic byproducts build up in the body, leading to various health problems.

Symptoms: Infants with Tyrosinemia Type I may appear normal at birth but typically develop symptoms within the first few months of life. These symptoms can include failure to thrive, yellowing of the skin and eyes (jaundice), cabbage-like odor, poor appetite, and a tendency to bleed easily. Without treatment, the condition can progress to liver and kidney failure, neurological problems, and even death.

Treatment: Early diagnosis and treatment are crucial for managing Tyrosinemia Type I. The primary treatment involves a special diet low in tyrosine and phenylalanine, which are found in protein-rich foods. Medications may also be prescribed to help reduce the production of toxic byproducts. In severe cases, a liver transplant may be necessary to replace the faulty enzyme and prevent further complications.

Prognosis: With early detection and appropriate treatment, individuals with Tyrosinemia Type I can lead relatively normal lives. However, long-term management and adherence to the prescribed diet are essential to prevent complications and maintain overall health.