Title: Tyrosinemia Type 1- A Rare Inborn Error of Metabolism
Authors: Dr Akshay Wanvat, Dr Shaista Parween, Dr Snehal Sonune, Dr Ankita Kamble
DOI: https://dx.doi.org/10.18535/jmscr/v9i8.28
Abstract
Introduction
Tyrosinemia type 1 is an autosomal recessive inherited metabolic disorder attributed to deficiency of fumarylacetoacetate hydrolase (FAH), which is a terminal enzyme in the metabolism of tyrosine. The gene for this enzyme has been mapped to the long arm of chromosome 15[1]. While primarily synthesized in the liver, FAH is also synthesized at moderate amounts in kidneys, adrenal glands, lungs, heart, intestines, stomach, pancreas, lymphocytes and skeletal muscles[1]. The HT1 frequency worldwide is about 1 in 100,000 individuals.[2]
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