April 03, 2025 08:49 PM
Alkaptonuria is a rare genetic disorder that can lead to joint diseases and kidney stones.
Alkaptonuria is a rare genetic disorder caused by an enzyme homogentisate 1,2-dioxinase deficiency. In an interview with HT lifestyle, Dr. Abhishek Agraval, Consultant Urologist, Jupiter Hospital Thane explained why T blacks the urine, “This enzyme is necessary to break the homogentitis acid, an by -appearance of amino acid metabolism. When there is a deficiency of enzyme, it is the bodies and acids in the body and acid. Black colored – a hallmark symptom of alcaptonuria. Also read World Kidney Day 2025: What can your urine tell about your kidney health? Doctors tell
Early signs of alkaptonuria:
“Black malaise of urine is often the first and most noticeable sign of the disease, usually appearing in infancy or early childhood. However, many individuals with alkaptonuria cannot experience other symptoms until later in life. The creation of homogantic acid in decades is called oconnosis, where a acid binds are reduced, where reducing acid binds.
Long -term effects of Alkaptonuria:
- Joint disease: One of the most important long -term effects of alkaptonuria is degenerative joint disease. The joints become brittle and there is a risk of wearing and tearing in the cartilage. Patients often develop severe arthritis, especially in the spine, hips and knees, up to their 30s or 40s. This combined damage can lead to chronic pain, low mobility and low quality of life. Also read Blood in urine: when to worry and what to take clinical steps
- Kidney and prostate stones: The buildup of homogentitis acid can be crystallized in the kidneys and prostate which is leading for the formation of stone.
- Pigment: Patients may experience deep pigmentation in the ears, skin and scarera (white part of the eye), which is a visual sign of the progression of the disease.
Diagnosis and treatment of alkaptonuria:
“There is currently no cure for alkaptonuria, initial diagnosis and symptom management can improve the patient’s results. Treatment usually focuses on pain relief, preservation of joint work and monitoring of heart and kidney complications.” Also read UTI on growth among men: Doctors blame lifestyle and stress for this troubled trend
Note the readers: This article is only for informative purposes and is not an option for professional medical advice. Always consult your doctor with any question about a medical condition.
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