Lynchburg Journal of Medical Science
Alkaptonuria (AKU) is a rare autosomal disease disrupting the breakdown of tyrosine due to a mutation on the homogentisate 1,2-dioxygenase enzyme (HGD) causing an accretion of homogentisic acid (HGA) in the body. The collection of HGA can migrate to connective tissue where it oxidizes, leaving a bluish-blackish pigment (ochronosis) in the sclera, ears, and tendons. All AKU patients will have dark urine due to the oxidation of the HGA in the urine. This case study describes a patient who presents with degenerative osteoarthritis (OA), common in older patients and often irreversibly deteriorates the articular cartilage that cushions the joints of the knees, hips, and spine. The dermatological review, intra-operative findings, and oxidation of the urine led to the diagnosis of Alkaptonuria (AKU).
Conrad A. A Rare Metabolic Genetic Disease - Alkaptonuria. Lynchburg Journal of Medical Science. 2023; 5(1).
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