Tyrosinemia type 1 (TYR1)
is a genetic disorder caused by a deficiency in the fumarylacetoacetate acid hydrolase (FAH) enzyme.Medications (NTBC) combined with a Tyr and Phe restricted diet are used to prevent high levels of succinylacetone and Tyr.
This App is designed to support families and children with TYR1 on medications (NTBC) combined with Tyr and Phe (protein) restricted diets.
What is TYR1?
Tyrosinemia type 1 (TYR1) is a genetic disorder caused by a deficiency in the fumarylacetoacetate acid hydrolase (FAH) enzyme. Read more on TYR1 via this link.
FAH is one of the enzymes that helps break down the amino acid Tyrosine (Tyr).
Try is an important amino acid that we make in our body and eat from protein in foods. Protein is important for growth in children and health maintenance in adults.
Decreased enzyme activity results in the build up of Tyr in the blood and toxic metabolites, for example succinylacetone.
Another source of Tyr is dietary phenylalanine (Phe), an essential amino acid which is converted into Tyr in the body.
Typical symptoms of Tyr-1 such as poor growth, vomiting, diarrhea, and jaundice can appear within the first 6 months of life. The liver is usually the most affected by TYRSN1, however the kidneys, nervous system, and eyes may also be affected if this disorder is not treated.
People living with TYRSN1 are prescribed a medication called Nitisinone. This medication helps to decrease the amount of toxic metabolites such as succinylacetone.
Why a diet?
Medications (NTBC) combined with a Tyr and Phe restricted diet are used to prevent high levels of succinylacetone and Tyr.
When on medications (NTBC) people living with TYR1 are prescribed their daily protein restriction by their doctor or dietitian. These daily goals often need to be changed based on each person’s nutritional needs and age requirements.
Since nutrition labels on foods do not list Tyr or Phe content of foods, it is very difficult to track their daily dietary intake.
We hope this App makes daily protein and Tyr counting and meal planning easier for people following low protein diets.
For whom?
This App is designed to support families and children with TYR1 on medications (NTBC) combined with Tyr and Phe (protein) restricted diets.
This App is not a substitute for the health care provided by your medical team!