A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

WJ Introne, MB Perry, J Troendle, E Tsilou… - Molecular genetics and …, 2011 - Elsevier
Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to
deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA)
accumulates and is excreted in gram quantities in the urine, which turns dark upon
alkalization. The first symptoms, occurring in early adulthood, involve a painful,
progressively debilitating arthritis of the spine and large joints. Cardiac valvular disease and
renal and prostate stones occur later. Previously suggested therapies have failed to show …