Open access
Sep 2026
Unraveling the metabolic landscape of alkaptonuria through a human-relevant in vitro liver disease model
Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine catabolism caused by a deficient homogentisate 1,2-dioxygenase (HGD) enzyme. This results in the accumulation of homogentisic acid (HGA), driving a progressive multisystem pathology characterized by debilitating early-onset osteoarthritis due to conn...
Matthias Rombaut, Gigly G. Del'haye, Sien Lequeue et al.
· bioRxiv · 0 citations