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The desease: biochimic reminder of the desease
The Tyrosinemia is a hereditary and rare disease of the metabolism, to be specific this disease affects the amino acids’ metabolism.
There is a lack of activity or a dysfunction of an enzyme produces by the liver in the way of detoriation called: tyrosine hydroxylase.
The tyrosine is present in most of animal and vegetable proteins (meat, fish, dairy products, eggs, legumes, nuts or tofu).
This deficience causes gradually:
- an accumulation of the tyrosine in blood, but more important, an accumulation of 2 metabolites: Maleyl-Aceto Acetate (MAA) and Fumaryl Acetoacetate Hydrolase (FAH), extremely toxic which harm the liver and the kidneys.
- an accumulation of Succinyl-Acetone (SA) and delta-Amino Levulinic Acid (ALA) in blood and urines, which are toxics and damage the peripheral nervous system (nerves), the skin and the eyes development.
Desease: the desease transmission
The Tyrosinemia is a hereditary desease. To transmit it, two parents must carried the deficient gene. But, they are not themselves affected by the desease. In fact, their enzym FAA works correctly in order to avoid these toxic accumulations.