The basics of Alkaptonuria

Welcome back Broritos to another exciting blog from your friends the A&K connection!

Today we’ll be talking all about the basics of Alkaptonuria, so don’t forget to grab your snacks!

Alkaptonuria or “Black urine disease” is a rare inherited disease that is passed on from parents in an autosomal recessive manner. In this disease. individuals lose their ability to metabolize tyrosine during a stepwise breakdown in the tyrosine degradation pathway.Thus, the body starts to accumulate an intermediate called homogentisic acid.(HGA). HGA is a toxic compound to the human body.The mutation of the HGD gene is the sole cause of this disease because it codes for an enzyme called homogentisate 1,2-dioxygenase. This enzyme is required in the tyrosine degradation pathway to breakdown HGA to maleylacetoacetic acid.Therefore, mutation in the HGD gene would produce a dysfunctional homogentisate 1,2-dioxygenase which loses its ability to convert HGA to maleylacetoacetic acid. Soon, the body starts to accumulate HGA toxic substances which causes three major and several other possible complications.

But argh, it all seems so complicated! D:

So i got a pathway diagram just for you guys! :D

~ Fun fact: there is 2000 times more HGA in affected individuals compared to unaffected individuals ~

See, it’s not so complicated when you’re with us!

So once again, thank you for reading my blog, and I’ll see you in the next post where we talk about the three major the complications (and genetics) of Alkaptonuria! 

Peace out Broritos! :D