Expert: Walter Hintz - 2/13/2006

Question
1 about how common is Alcaptonuria
2 is Alcaptonuria caused by a gene mutation or a chromosome mutation? Explain.

Answer
Hi Janine:
AKU is a genetic mutation or inborn error of metabolism (IEM)  The gene locus is known (3q21q-23)
 In most European countries the rate of occurance is 1/250,000 births and in Slovakia it is 1/19000
  It has been found to have occured in an Egyptian mummy.

If you google AKU you can find out a lot more.