Save information for later
Sign Up

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
Medical Genetics | Pediatrics
Distinguished in Tyrosinemia Type 3
Medical Genetics | Pediatrics

University Physicians Incorporated

13123 E 16th Ave, 
Aurora, CO 
Languages Spoken:
English
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 3. 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.

Advanced in Tyrosinemia Type 3
Advanced in Tyrosinemia Type 3

Yale University

1 Long Wharf Dr, Suite 503, 
New Haven, CT 
Experience:
21+ years
Languages Spoken:
English
Accepting New Patients

Michele Spencer-Manzon is a Medical Genetics provider in New Haven, Connecticut. Dr. Spencer-Manzon has been practicing medicine for over 21 years and is rated as an Advanced provider by MediFind in the treatment of Tyrosinemia Type 3. Their top areas of expertise are Tyrosinemia Type 1, Tyrosinemia Type 3, Tyrosinemia Type 2, and Maple Syrup Urine Disease. Dr. Spencer-Manzon is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Tyrosinemia Type 3
Advanced in Tyrosinemia Type 3
Union Hospital, 
Wuhan, CN 

Dong Han practices in Wuhan, China. Han and is rated as an Advanced expert by MediFind in the treatment of Tyrosinemia Type 3. Their top areas of expertise are Hypohidrotic Ectodermal Dysplasia, Polydactyly, Clouston Syndrome, Oophorectomy, and Bone Graft.

What are the latest Tyrosinemia Type 3 Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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