Tyrosinemia Type 2 Symptoms, Doctors, Treatments, Advances & More

Tyrosinemia Type 2 Overview

Definition
Alternate Names
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Clinical Trials
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Learn About Tyrosinemia Type 2

What is the definition of Tyrosinemia Type 2?

Tyrosinemia type 2 is a genetic disorder in which individuals have elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition can affect the eyes, skin, and intellectual development. Symptoms of Tyrosinemia type 2 often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis). About 50 percent of individuals with this condition have an intellectual disability. Tyrosinemia type 2 is caused by a deficiency of the enzyme tyrosine aminotransferase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by genetic changes in the TAT gene. This condition is inherited in an autosomal recessive manner.

What are the alternative names for Tyrosinemia Type 2?

Tyrosinemia type 2
Keratosis palmoplantaris with corneal dystrophy
Oculocutaneous tyrosinemia
Oregon type tyrosinemia
Richner Hanhart syndrome
TAT deficiency
Tyrosine aminotransferase deficiency
Tyrosine transaminase deficiency
Tyrosinemia type II
Tyrosinosis oculocutaneous type

Who are the top Tyrosinemia Type 2 Local Doctors?

Distinguished in Tyrosinemia Type 2

Dr. Peter R. Baker

Medical Genetics | Pediatrics

Distinguished in Tyrosinemia Type 2

Dr. Peter R. Baker

Medical Genetics | Pediatrics

University Physicians Incorporated

13123 E 16th Ave,

Aurora, CO

720-777-1234

Languages Spoken:

English

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Accepting New Patients

Peter Baker is a Medical Genetics specialist and a Pediatrics provider in Aurora, Colorado. Dr. Baker and is rated as a Distinguished provider by MediFind in the treatment of Tyrosinemia Type 2. His top areas of expertise are Tyrosinemia Type 1, Tyrosinemia Type 2, Tyrosinemia Type 3, and Maple Syrup Urine Disease. Dr. Baker is currently accepting new patients.

Distinguished in Tyrosinemia Type 2

Emilio L. Streck

Distinguished in Tyrosinemia Type 2

Emilio L. Streck

Criciuma, SC, BR

Emilio Streck practices in Criciuma, Brazil. Streck and is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 2. His top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Hereditary Fructose Intolerance, and Memory Loss.

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Distinguished in Tyrosinemia Type 2

Milena Silva-Carvalho

Distinguished in Tyrosinemia Type 2

Milena Silva-Carvalho

Av. Universitária, 1105,

Criciuma, SC, BR

Milena Silva-Carvalho practices in Criciuma, Brazil. Silva-Carvalho and is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 2. Her top areas of expertise are Tyrosinemia Type 2 and Cyclothymic Disorder.

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What are the latest Tyrosinemia Type 2 Clinical Trials?

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Tyrosinemia Type 2?

From skin lesions to tyrosinemia type II diagnosis.

Journal: Journal of inherited metabolic disease

Published: November 24, 2023