As part of our rare disease focus month we interview Oliver Timmis of the AKU society on how we can increase recognition of rare diseases such as AKU. There are approximately 7000 rare diseases and ...

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) ...

Ochronosis is a cutaneous disorder caused by the accumulation of phenols, either endogenously as homogentisic acid in patients with alkaptonuria (autosomal recessive disorder with deficiency of the ...

Clear urine may mean you are drinking more water than your body needs. Dark yellow or brown pee usually means you're dehydrated. Pink or red pee could mean there's blood in it, which might be a sign ...

Applied Therapeutics (APLT), a microcap focused on rare diseases, has agreed to be acquired by privately held Cycle Pharmaceuticals. Terms call for Cycle to acquire all outstanding Applied shares for ...