Monday, December 29, 2014

Further Understanding of Tyrosinemia and Its Symptoms

Hello!

Previously, we have learnt about the specific types of tyrosinemia, and also its pathways in general. Today, we will be focusing on the specific pathways of each type of tyrosinemia, and how they affect the body's ability to break down tyrosine.

BUT WAIT!


Why does accumulation of tyrosine in the body cause pain?
From the previous post, we mentioned that an accumulation of tyrosine in the body can cause pain. To be more accurate, tyrosine accumulates in the bloodstream until it reaches a toxic level. Different types of tyrosinemia can cause different symptoms to occur in the body! Let's look at the three diseases in more detail.

Tyrosinemia Type I

This type of tyrosinemia is caused by the deficiency or absence of the enzyme furmarylacetoacetate hydrolase, causing the accumulation of succinylacetone, which is also the final step in tyrosine metabolism and degradation. This causes it to accumulate in the liver and kidneys, causing oxidative damage and DNA damage, leading to cell death. This also alters metabolic processes like protein synthesis. Symptoms if a person has this disorder include jaundice, diarrhea, vomiting and a cabbage like odor on the skin. This is generally the most severe disorder.


I don't think a cabbage-like odor smells good.
Tyrosinemia Type II

This type of tyrosinemia is cause by, you guessed it, another enzyme. This is caused by the deficiency of tyrosine aminotransferase, in which accumulation and affect eye, skin and mental development. Being an autosomal recessive condition, it only occurs in fewer that 1 in 250,000 individuals. Symptoms include skin lesions on the palms and soles and abnormal sensitivity to light.

Much ouch.

Tyrosinemia Type III

Being one of the rarest form the disease, Type III tyrosinemia is caused by the deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase. Accumulation of the tyrosine byproduct, 4-hydroxyphenylpyruvate results in symptoms include intellectual disability, seizures and periodic loss of balance of coordination, also known as intermittent ataxia.

So whoa.

So today we have covered on the several types of tyrosinemia and its symptoms! But don't fret, for if someone you know has tyrosinemia, there are ways and methods to dealing with this condition. Next time, watch out for ways to handle and take care of the metabolic disorder.

Watch out for much AMAZE stuff.

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