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Diseases » Tyrosinemia » Summary
 

What is Tyrosinemia?

What is Tyrosinemia?

  • Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver.
  • Tyrosinemia: autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation.
    Source - WordNet 2.1

Tyrosinemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tyrosinemia, or a subtype of Tyrosinemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Tyrosinemia: Introduction

Types of Tyrosinemia:

Broader types of Tyrosinemia:

How serious is Tyrosinemia?

Complications of Tyrosinemia: see complications of Tyrosinemia

What causes Tyrosinemia?

Causes of Tyrosinemia: see causes of Tyrosinemia

What are the symptoms of Tyrosinemia?

Symptoms of Tyrosinemia: see symptoms of Tyrosinemia

Complications of Tyrosinemia: see complications of Tyrosinemia

Can anyone else get Tyrosinemia?

More information: see contagiousness of Tyrosinemia
Inheritance: see inheritance of Tyrosinemia

Tyrosinemia: Testing

Diagnostic testing: see tests for Tyrosinemia.

Misdiagnosis: see misdiagnosis and Tyrosinemia.

How is it treated?

Doctors and Medical Specialists for Tyrosinemia: Medical Geneticist ; see also doctors and medical specialists for Tyrosinemia.
Treatments for Tyrosinemia: see treatments for Tyrosinemia
Research for Tyrosinemia: see research for Tyrosinemia

Name and Aliases of Tyrosinemia

Main name of condition: Tyrosinemia

Other names or spellings for Tyrosinemia:

congenital tyrosinosis, hereditary tyrosinemia

Tyrosinemia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Tyrosinemia:

 

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