Giulia Bernardini, Daniela Braconi, Andrea Zatkova, Nick Sireau, Mariusz J Kujawa, Wendy J Introne, Ottavia Spiga, Michela Geminiani, James A Gallagher, Lakshminarayan R Ranganath, Annalisa Santucci
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective tissues), and a painful and severe form of osteoarthropathy. Other clinical manifestations are extremely variable and include kidney and prostate stones, aortic stenosis, bone fractures, and tendon, ligament and/or muscle ruptures...
March 7, 2024: Nature Reviews. Disease Primers