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 9 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 23 days 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.