We are back to share more information about the different types of tyrosinemia with you! ^_^
As we have mentioned at the end of our previous post, there 3 types of tyrosinemia, all caused by the lack or deficiency of different enzymes in the metabolic pathway of tyrosinemia. Here's a minor introduction to each one of them!
Type 1
- Most common and most severe form of the three
- Also known as: FAH deficiency, Tyrosinosis, Hereditary infantile tyrosinemia, Hepatorenal tyrosinemia
- Deficient enzyme: Fumarylacetoacetate hydrolase (FAH)
- Mutated gene: FAH gene
- Occurs in all ethnic groups in the world, although more often in people of the French-Canadian origin
- Affects about 1 out of 100,000 babies born globally, whereas it affects about 1 out of 2000 babies of French-Canadian origin
- Also known as: Richner-Hanhart Syndrome
- Deficient enzyme: Tyrosine aminotransferase (TAT)
- Mutated gene: TAT gene
- Occurs more often in Arab and Mediterranean populations
- Affects about 1 out of 250,000 babies born globally
- Very rare
- Deficient enzyme: 4-hydroxyphenylpyruvate dioxygenase (HPD)
- Mutated gene: HPD gene
- Less than 20 cases have been reported
We are nice people and we shall not overload you guys with too much information today. :)
We hope you enjoyed this post and have learned something from it! Do leave a comment on the chat box on the left hand side of this page if you have any questions for us!
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