While we have previously discussed about the specific type of Tyrosinemia (Type I), we have yet to explain what it REALLY is all about. How serious is this? What is the ubiquity of it?
In this post, we will be exploring tyrosinemia as a whole in slightly greater details.
Firstly, everyone needs to know that tyrosinemia is genetically-linked and is caused when your gene does not code for certain enzymes involved in the catabolism of tyrosine. Type I Tyrosinemia is a rather rare disease that only affects 1 in 100,000 people worldwide. Type II and type III are of even greater rarity; only 1 in 250,000 is affected by type II tyrosinemia worldwide, and only few cases of type III tyrosinemia has been reported worldwide.
The genes that are involved in the tyrosine metabolic pathways are known as the FAH, HPD and TAT gene. These genes are involved in the breakdown of tyrosine!
Here's the illustration of it -
Here are some biological jargons that will help you understand the above image better -
the aforementioned genes, TAT, HPD and FAH stands for these -
TAT = Tyrosine aminotransferase
4HPP dioxygenase = 4hydroxyphenyl pyruvate dioxygenase
FAH - fumarylacetoacetate hydrolase (aka fumarylacetoacetase)
As we can see above, all 3 enzymes cause tyrosinemia and the lack of each specific one causes a different type of tyrosinemia.
You might then be wondering, so what if we lack these enzymes?
The answer is simple - your body accumulates tyrosine or compounds that are part of this metabolic pathway and leads to toxic amounts that will lead to the symptoms of tyrosinemia.
In the next post, we will then go through the typical symptoms that arises from the various types of tyrosinemia.
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