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? |
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. |
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. |
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. |
Watch out for much AMAZE stuff.
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