An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.

ABSTRACT: Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease. Many tissues that are affected by ochronosis are not accessible for study during life, including tissues subjected to early and mid-stage disease. Here, the opportunity arose to anatomically examine a 60-year-old AKU female body donor, allowing the investigation of previously understudied tissue, including those undergoing early-stage pathologi

SUBMITTER: Hughes JH 

PROVIDER: S-EPMC12079772 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature