The primary symptom of AKU is the darkening of urine upon exposure to air. This discoloration ranges from dark brown to black. However, not all individuals with AKU experience this symptom.
Over time, the build-up of homogentisic acid (HGA) causes ochronosis, which is the darkening of connective tissues such as cartilage, tendons, and ligaments. This leads to joint stiffness, swelling, and pain, particularly in weight-bearing joints like the hips and knees.
AKU can also lead to cardiac complications, kidney stones, and renal problems.
Symptoms can vary in severity and progression among individuals. While there is no cure for AKU, nitisinone treatment can effectively halt the progression of symptoms, while other treatments focus on managing symptoms and improving quality of life.
If you have received an AKU diagnosis, or think you may have the condition, please contact email@example.com
An introduction to alkaptonuria and nitisinone