Hereditary tyrosinemia type-1

Hereditary Tyrosinemia Type-1 (HT1): An Overview

Hereditary tyrosinemia type-1 (HT1) is a rare inherited metabolic disorder that is characterized by an accumulation of the amino acid tyrosine in the body. Tyrosine is a building block of proteins that is naturally present in the body, but when an individual has HT1, the body cannot adequately process it. This can lead to the buildup of a potentially toxic waste material called succinylacetone. As a result, HT1 can cause certain health problems including:

  • Liver damage and cirrhosis
  • Hepatic encephalopathy
  • Renal tubular dysfunction
  • Hemolytic anemia
  • Failure to thrive in infants
  • A variety of other associated health problems

HT1 is caused by a genetic mutation that disrupts the body’s ability to produce the enzyme fumarylacetoacetate hydrolase (FAH). This enzyme is responsible for breaking down the tyrosine in the body. Without it, tyrosine can build up to create the toxic substance succinylacetone, which can lead to liver and kidney damage, anemia, and other issues. Without treatment, HT1 can be fatal.

Fortunately, effective treatments for HT1 are available. Diet therapy is one common approach to managing HT1. This involves avoiding foods that contain tyrosine, such as red and processed meats, fish, eggs, dairy, as well as some fruits and vegetables. A doctor may also prescribe certain medications and treatments to help reduce the symptoms of HT1. These may include vitamin supplements, sedatives, certain antibiotics, and medications to reduce the levels of tyrosine. In some cases, a liver transplant may also be recommended for those who have advanced liver damage.

HT1 is a serious medical condition that requires careful management. It is important to speak with a doctor if you or a family member have been diagnosed with HT1 to get the best possible treatment plan.