Definition of Alkaptonuria



Alkaptonuria is known to be a rare disorder which is caused when the abnormal copy of genetic material is passed down from both the parents to the offspring. There is an HGD gene which is responsible for the formation of an enzyme, homogentisate 1,2-dioxygenase. This enzyme serves the role of catalyzing amino acids like tyrosine and phenylalanine.

 


If there occurs a mutation in this gene, then the body starts accumulating a substance which is known as homogentisic acid in the tissues as well as in blood. When this acid gets oxidized, it gives rise to alkapton which is excreted out through the urine, which is unusually darker in color. This accumulated substance leads to various other conditions like osteoarthritis, kidney stones etc.

 

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