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What is Oculocutaneous tyrosinemia?

What is Oculocutaneous tyrosinemia?

  • Oculocutaneous tyrosinemia: A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions.

Oculocutaneous tyrosinemia: Introduction

Types of Oculocutaneous tyrosinemia:

Broader types of Oculocutaneous tyrosinemia:

How many people get Oculocutaneous tyrosinemia?

Prevalance of Oculocutaneous tyrosinemia: 1 per 250,000 people suffer from tyrosinemia type 2, Genetics Home Reference website
Prevalance Rate of Oculocutaneous tyrosinemia: approx 1 in 250,000 or 0.00% or 1,087 people in USA [about data]

How serious is Oculocutaneous tyrosinemia?

Prognosis of Oculocutaneous tyrosinemia: good but lack of treatment can cause mental retardation
Complications of Oculocutaneous tyrosinemia: see complications of Oculocutaneous tyrosinemia

What causes Oculocutaneous tyrosinemia?

Causes of Oculocutaneous tyrosinemia: see causes of Oculocutaneous tyrosinemia

What are the symptoms of Oculocutaneous tyrosinemia?

Symptoms of Oculocutaneous tyrosinemia: see symptoms of Oculocutaneous tyrosinemia

Complications of Oculocutaneous tyrosinemia: see complications of Oculocutaneous tyrosinemia

Onset of Oculocutaneous tyrosinemia: birth

Can anyone else get Oculocutaneous tyrosinemia?

More information: see contagiousness of Oculocutaneous tyrosinemia
Inheritance: see inheritance of Oculocutaneous tyrosinemia

Oculocutaneous tyrosinemia: Testing

Diagnostic testing: see tests for Oculocutaneous tyrosinemia.

Misdiagnosis: see misdiagnosis and Oculocutaneous tyrosinemia.

How is it treated?

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

Name and Aliases of Oculocutaneous tyrosinemia

Main name of condition: Oculocutaneous tyrosinemia

Other names or spellings for Oculocutaneous tyrosinemia:

Keratosis palmoplantaris - corneal dystrophy, Tyrosinemia type II, Richner-Hanhart syndrome, Oregon tyrosinemia, Keratosis palmoplantaris with corneal dystrophy, tyrosine transaminase deficiency, tyrosinemia type 2, Tyrosine aminotransferase deficiency, Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type, Oregon type tyrosinemia

Oculocutaneous tyrosinemia: Related Conditions

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


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