Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation

• Published in: Canadian liver journal Vol. 7; no. 1; pp. 54 - 63
• Main Authors: Kehar, Mohit, Sen Sarma, Moinak, Seetharaman, Jayendra, Jimenez Rivera, Carolina, Chakraborty, Pranesh
• Format: Journal Article
• Language: English
• Published: Canada University of Toronto Press 01.02.2024
• Subjects: Enzymes; Liver; Medical research; Medicine, Experimental; Patient compliance; Review; Transplantation; Tyrosine; Canada; Ontario; Quebec; HT1; transplantation; pediatric

Hepatorenal tyrosinemia type 1 (HT-1) is a rare autosomal recessive disease that results from a deficiency of fumaryl acetoacetate hydrolase (FAH), a critical enzyme in the catabolic pathway for tyrosine. This leads to the accumulation of toxic metabolites such as fumaryl and maleylacetoacetate, whi...