Tyrosinemia Type 1
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Tyrosinemia Type 1 Overview

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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 practicing medicine in Groningen, Netherlands. Van Ginkel is rated as an Elite expert by MediFind in the treatment of Tyrosinemia Type 1. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses 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 practicing medicine in Portland, Oregon. Dr. Grompe is rated as an Elite provider by MediFind in the treatment of Tyrosinemia Type 1. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Congenital Aplastic Anemia, Tyrosinemia Type 1, Phenylketonuria (PKU), Islet Cell Transplantation, and Hepatectomy.

 
 
 
 
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Advanced in Tyrosinemia Type 1
Dr. Tarachandra M. Narumanchi
Medical Genetics
Advanced in Tyrosinemia Type 1
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
See accepted insurances

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 1. 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.

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