Alkaptonuria (AKU), also known as black bone disease or black urine disease, is an inborn tyrosine-metabolic condition. It is one of the genetically inherited rare autosomal recessive disorders with a very low prevalence worldwide. Let us learn more about the disease symptoms, causes, treatment, and management strategies. Clinical presentation 1,2 Although AKU is an inborn condition, patients often remain unaware until adulthood. A unique presentation of AKU is black-colored urine.
The urine turns black after exposure to air. However, the change in color may take several hours and hence often go unnoticed. Eventually, this condition develops into ochronosis, i.e., bluish-black discoloration of the connective tissues in the body. Besides these primary characteristics, other symptoms of AKU may include: Changes in the eye: Discoloration of the sclera Thickening of ear cartilage and…
