Alkaptonuria is a very rare inherited disorder. The condition is also known as black urine disease because a patient’s urine turns dark brown or black when it comes in contact with the air. This disorder gets triggered as the body cannot completely break down two amino acids, tyrosine and phenylalanine, which build up protein. The body cannot produce an enzyme called homogentisic dioxygenase acid (HGD), leading to brittleness and discolouration of the bones and cartilage. It signals the onset of osteoarthritis, especially in the spine and large joint areas. There is no specific treatment for alkaptonuria, but taking certain medicines and bringing about lifestyle changes can help manage the symptoms.
What are the Treatments for Alkaptonuria?
Alkaptonuria is a lifelong condition with no specific treatment. Any alleviation of the condition focuses mainly on the use of anti-inflammatory medicines or narcotics. The options to manage the symptoms of alkaptonuria include:
Nitisinone: This medication reduces the level of homogentisic acid in the body to slow the advancement of alkaptonuria in adults.
Diet: A diet with low protein intake can help reduce the risk of potential side effects nitisinone may cause.
Exercise: If the condition starts causing pain and stiffness, gentle exercises may help build muscles and strengthen the joints. Doing so may also help relieve stress, lose weight, improve posture, and ease symptoms. Consulting a physiotherapist may help, as they can customise an exercise plan.
Pain relief: Consult the doctor before starting any medicines, including painkillers, to manage the pain.
Emotional support: Alkaptonuria is a lifelong inherited disorder and a person diagnosed with the condition may feel anxious, stressed, and depressed. They may need emotional support from their family or caregiver in dealing with the condition.
Surgery: The onset of alkaptonuria can make the cartilage, which is flexible tissue, hard and cause breakage, leading to joint damage. The doctor may suggest surgery, especially hip, knee, or aortic valve replacement.