Tyrosinemia, Causes and symptoms of Tyrosinemia


  • Posted on- May 11, 2018
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What is Tyrosinemia?

Tyrosinemia is a genetic metabolic disease 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 is required for the metabolism of tyrosine.

If left untreated, tyrosine and its waste products build up in tissues and organs that can lead to serious medical problems like 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 of the disease 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 of the disease 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 of the disease 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 doctor can diagnose tyrosinemia based on the child’s symptoms, medical history, and results from blood and urine tests.

Treatment for tyrosinemia depends 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.


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