What is Tyrosinemia?

Tyrosinemia is a genetic metabolic disorder that causes the body’s inability to effectively break down the amino acid tyrosine. The inability to breakdown the amino acid is caused by the deficiency of the fumarylacetoacetate hydrolase (FAH) enzyme which required for the metabolism of tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious medical problems such as liver disease, kidney disease and mental retardation.

Types of Tyrosinemia

There are three types of tyrosinemia which are categorized by their symptoms and causes.

Tyrosinemia Type 1: Most severe and can lead to kidney and liver failure. Symptoms begin in the first few months of life. Babies with this condition have a hard time gaining weight, experience frequent nosebleeds and show signs of jaundice.

Tyrosinemia Type 2: Affects the eyes, skin, and mental development. Symptoms begin in early childhood. Children with this condition can have eye pain, painful skin, and mental disability.

Tyrosinemia Type 3: Rarest of the types. Symptoms include intellectual disability, seizures, and intermittent ataxia.

Tyrosinemia Symptoms

The symptoms for tyrosinemia in children depend on what type of tyrosinemia is diagnosed.

Tyrosinemia Type 1 Symptoms

  • Bloody stools
  • Cabbage like odor
  • Diarrhea
  • Fatigue
  • Poor weight gain
  • Failure to thrive
  • Vomiting

Tyrosinemia Type 2 Symptoms

  • Painful lesions on the skin
  • Red eyes and light sensitivity
  • Corneal clouding
  • Intellectual disability
  • Behavioral problems
  • Convulsions

Tyrosinemia Type 3 Symptoms

  • Intellectual disability
  • Seizures
  • Intermittent ataxia

Diagnosis and Treatment of Tyrosinemia

A physician can diagnose tyrosinemia based on the child’s symptoms, medical history, and results from blood and urine tests.   

Treatment for tyrosinemia varies on the type of tyrosinemia a child has but may include dietary restrictions, medication, or liver transplant. A liver transplant is considered when all other treatments have failed.

For more information on tyrosinemia or to schedule an appointment with a physician, call 314.454.5437 or 800.678.5437 or email us.