Novel R225C variant identified in the <i>HGD</i> gene in Jordanian patients with alkaptonuria

Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

“…The excess HGA and its polymer bind to the connective tissues, leading to their bluish-black pigmentation over the years, a phenomenon known as ochronosis [ 3 ]. Alkaptonuria occurs worldwide with a global prevalence of 1:250,000, but the prevalence is higher in certain regions such as Slovakia [ 4 ], the Dominican Republic, and Jordan [ 5 , 6 ]. Patients with undiagnosed alkaptonuria routinely present to orthopedic clinics complaining of low back pain, morning stiffness, and pain in the large joints such as knees and shoulders [ 7 , 8 ].…”