Tyrosinemia Type 2
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Tyrosinemia Type 2 Overview

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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?
Advanced in Tyrosinemia Type 2
Dr. Tarachandra M. Narumanchi
Medical Genetics
Advanced in Tyrosinemia Type 2
Dr. Tarachandra M. Narumanchi
Medical Genetics

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
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Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Tyrosinemia Type 2. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

Distinguished in Tyrosinemia Type 2
Emilio L. Streck
Distinguished in Tyrosinemia Type 2
Emilio L. Streck
Av. Universitária, 1105, 
Criciuma, SC, BR 

Emilio Streck practices practicing medicine in Criciuma, Brazil. Mr. Streck is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 2. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Maple Syrup Urine Disease, Tyrosinemia Type 2, Memory Loss, and Hereditary Fructose Intolerance.

 
 
 
 
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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 practicing medicine in Criciuma, Brazil. Ms. Silva-Carvalho is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 2. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Tyrosinemia Type 2 and Cyclothymic Disorder.

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