Tyrosinemia Type 3 Overview

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Learn About Tyrosinemia Type 3

What is the definition of Tyrosinemia Type 3?
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by genetic changes in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
What are the alternative names for Tyrosinemia Type 3?
  • Tyrosinemia type 3
  • 4-alpha hydroxyphenylpyruvate dioxygenase deficiency
  • 4-alpha hydroxyphenylpyruvic acid oxidase deficiency
  • 4-hydroxyphenylpyruvate dioxygenase deficiency
  • Tyrosinemia type III
Who are the top Tyrosinemia Type 3 Local Doctors?
Distinguished in Tyrosinemia Type 3
Dr. Peter R. Baker
Medical Genetics | Pediatrics
Distinguished in Tyrosinemia Type 3
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 is rated as a Distinguished provider by MediFind in the treatment of Tyrosinemia Type 3. His top areas of expertise are Tyrosinemia Type 2, Tyrosinemia Type 1, Tyrosinemia Type 3, and Maple Syrup Urine Disease. Dr. Baker is currently accepting new patients.

Advanced in Tyrosinemia Type 3
Dr. Margo S. Breilyn
Medical Genetics | Pediatrics
Advanced in Tyrosinemia Type 3
Dr. Margo S. Breilyn
Medical Genetics | Pediatrics

Icahn School Of Medicine At Mount Sinai

1428 Madison Ave, 
New York, NY 
212-241-6947
Languages Spoken:
English
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Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as an Advanced provider by MediFind in the treatment of Tyrosinemia Type 3. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Tyrosinemia Type 1.

 
 
 
 
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Advanced in Tyrosinemia Type 3
Dr. Luis A. Umana
Pediatrics | Medical Genetics
Advanced in Tyrosinemia Type 3
Dr. Luis A. Umana
Pediatrics | Medical Genetics
5323 Harry Hines Blvd, 
Dallas, TX 
214-456-9093
Languages Spoken:
English
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Luis Umana is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Tyrosinemia Type 3. His top areas of expertise are Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Classic Galactosemia, Biotinidase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

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