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
by RareConnect team
published 17 days ago
Alkaptonuria (AKU) is a rare genetic disease that causes severe, early onset osteoarthritis. AKU is also known as black bone disease or black urine...
published about 1 month ago
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.