People with Tyrosinemia who rely on medical foods

Tyrosinemia (TYR) is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10.

Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability.

Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).

Andrew, Age 18

Texas · Tyrosinemia
Annual cost: $9600

My mother has worked as many as 5 jobs concurrently to maintain employer-provided insurance and has CONSTANTLY fought to keep me on a ...

Sasha, Age 11

Florida · Tyrosinemia
Annual cost: $6000

My daughter was diagnosed with a genetic inborn error of protein metabolism at 15 months of age. Since that time, our daily life has ...

Ethan

New York · Tyrosinemia
Annual cost: $4800

Ethan has tyrosinemia and cannot eat a regular diet. He is restricted on the amount of protein he is able to consume on a daily basis, ...

Zoey, 15 months

New York · Tyrosinemia
Annual cost: $1200

When our daughter was diagnosed with an Inherited Metabolic Disorder at 10 days old I remember the frantic whirlwind of calls, emails, ...

Claire, Age 8

Louisiana · Tyrosinemia
Annual cost: $6900

I want to introduce you to my eight-year-old daughter, Claire. At first glance Claire appears to be a normal 2nd grader. She loves ...

Vincent

Florida · Tyrosinemia
Annual cost: $3600

The average child eats what everyone else eats and thrives based upon a combination of nutrition, exercise and genetics. While we can ...

The Medical Nutrition Equity Act will provide key support for those Americans who rely on medical foods to survive and thrive.