Tyrosinemia Type 1 Overview

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Learn About Tyrosinemia Type 1

What is the definition of Tyrosinemia Type 1?
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This enzyme shortage is caused by genetic changes in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.
What are the alternative names for Tyrosinemia Type 1?
  • Tyrosinemia type 1
  • FAH deficiency
  • Fumarylacetoacetase deficiency
  • Hepatorenal tyrosinemia
  • Tyrosinemia type I
Who are the top Tyrosinemia Type 1 Local Doctors?
Elite in Tyrosinemia Type 1
Willem G. Van Ginkel
Elite in Tyrosinemia Type 1
Willem G. Van Ginkel
Groningen, GR, NL 

Willem Van Ginkel practices in Groningen, Netherlands. Van Ginkel is rated as an Elite expert by MediFind in the treatment of Tyrosinemia Type 1. Their top areas of expertise are Tyrosinemia Type 1, Phenylketonuria (PKU), Porphyria, and Vitamin B12 Deficiency Anemia.

Elite in Tyrosinemia Type 1
Dr. Markus C. Grompe
Pediatrics | Medical Genetics
Elite in Tyrosinemia Type 1
Dr. Markus C. Grompe
Pediatrics | Medical Genetics

University Professional Services

3181 Sw Sam Jackson Park Rd, 
Portland, OR 
503-494-8311
Languages Spoken:
English, German
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Markus Grompe is a Pediatrics specialist and a Medical Genetics provider in Portland, Oregon. Dr. Grompe is rated as an Elite provider by MediFind in the treatment of Tyrosinemia Type 1. His top areas of expertise are Congenital Aplastic Anemia, Tyrosinemia Type 1, Phenylketonuria (PKU), Islet Cell Transplantation, and Hepatectomy.

 
 
 
 
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Distinguished in Tyrosinemia Type 1
Margaretha R. Fokkema-Heiner
Distinguished in Tyrosinemia Type 1
Margaretha R. Fokkema-Heiner
Groningen, GR, NL 

Margaretha Fokkema-Heiner practices in Groningen, Netherlands. Ms. Fokkema-Heiner is rated as a Distinguished expert by MediFind in the treatment of Tyrosinemia Type 1. Her top areas of expertise are Tyrosinemia Type 1, Phenylketonuria (PKU), Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Kidney Transplant, and Ileostomy.

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What are the latest Tyrosinemia Type 1 Clinical Trials?
A Prospective, Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in Hereditary Tyrosinemia Type 1 (HT-1) Patients in Routine Clinical Care in China
A Prospective, Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in Hereditary Tyrosinemia Type 1 (HT-1) Patients in Routine Clinical Care in China
Enrollment Status: Recruiting
Publish Date: April 01, 2025
Intervention Type: Drug

Summary: This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.

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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