Welcome - Alkaptonuria (AKU) Community

What is Alkaptonuria (AKU) ?

Alkaptonuria (AKU) is a rare autosomal recessive disease, affecting tyrosine metabolism. Patients accumulate homogentisic acid at 2000 times the normal rate, resulting in cartilage degradation and symptoms similar to early-onset osteoarthritis.

Source: Participating patient organizations visible below

Alkaptonuria (AKU) Resources

More members stories

Latest Member Stories

Ann’s journey with alkaptonuria

by RareConnect team published 17 days ago No comment

Alkaptonuria (AKU) is a rare genetic disease that causes severe, early onset osteoarthritis. AKU is also known as black bone disease or black urine...

Living with the Disease

by marher45 published about 1 month ago One comment

I have been living with the disease since I was 15, but only in my 30s' did I start to notice symptoms like pain in the lumbar area and rigidity. A...

Partners and Patient Groups

RareConnect is a joint venture of EURORDIS and NORD. The following patient groups are official partners of this community.