The Story of Joshua - Dealing with Tyrosinemia Type I

Tyrosinemia can cause many problems, but with effective care and treatment, the patient can live a effective and normal life.

Before we talk about the ways and methods used to deal with Type I tyrosinemia, let us look at the story of Joshua's battle with the metabolic disorder, and how his family has coped well in looking after his diagnosis and treatment.

Have a nice day!

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.

Tyrosine at a Glance

Greetings everyone!

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.