Alkaptonuria is an uncommon genetic condition resulting from a lack of the enzyme homogentisate 1,2-dioxygenase. In a discussion with HT Lifestyle, Dr. Abhishek Agrawal, a consultant urologist at Jupiter Hospital Thane, elaborated on the reason behind the darkening of urine. He stated, “This enzyme plays a crucial role in the breakdown of homogentisic acid, which is a byproduct of amino acid metabolism. When there is a deficiency of this enzyme, homogentisic acid accumulates in the body and is subsequently excreted in the urine. When this acid comes into contact with air, it oxidizes, resulting in the urine turning dark brown or black—this is a characteristic symptom of alkaptonuria.”

Early signs of alkaptonuria:

“The dark discoloration of urine is often the first and most prominent sign of the disorder, usually manifesting in infancy or early childhood. However, many individuals with alkaptonuria may not show additional symptoms until later in life. The gradual accumulation of homogentisic acid over many years leads to a condition known as ochronosis, where the acid binds to connective tissues, causing them to darken and resulting in progressive tissue damage,” Dr. Abhishek Agrawal noted.

Long-term effects of alkaptonuria:

• Joint disorders: A major long-term consequence of alkaptonuria is the development of degenerative joint disorders. The accumulation of homogentisic acid in the cartilage results in the joints becoming fragile and susceptible to damage. By their 30s or 40s, patients frequently experience severe arthritis, particularly affecting the spine, hips, and knees. This joint deterioration can result in chronic pain, limited mobility, and a lower quality of life.
• Kidney and prostate calculi: The accumulation of homogentisic acid can lead to the formation of stones in the kidneys and prostate.
• Pigmentation changes: Individuals may also notice dark pigmentation in areas such as the ears, skin, and sclera (the white part of the eye), which serves as a visible indicator of the disease's advancement.

Diagnosis and treatment of alkaptonuria:

"Although there is no known cure for alkaptonuria, early detection and effective symptom management can enhance patient outcomes. Treatment generally aims to alleviate pain, maintain joint functionality, and monitor potential cardiovascular and renal issues," the urologist stated.

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