A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

A new retrospective cohort study claims that men with low testosterone levels may face a greater risk of developing higher-grade disease; the data came from undergoing active surveillance (AS) for localised prostate cancer.

The study evaluated 924 men who participated in AS between 2005 and 2024 to find out if lower serum testosterone levels are connected with Grade Group (GG) progression.

The participants in this study had an average age of 63.6 years, with a mean baseline testosterone level of 394 ng/dL. About 29% of the patients at the AS had testosterone levels at ≤300 ng/dL, which was a benchmark to define low testosterone.

The study finds that having lower testosterone may lead to progression to GG2 disease and faster progression to GG3 or higher. The researchers found at the AS that men with testosterone levels ≤300 ng/dL had a 61% higher risk of higher progression than men with high testosterone levels.

What Is Prostate Cancer?

The gland in the male reproductive system that makes seminal fluid is the prostate. This is the most common type of slow-growing cancer in men, which sees the abnormal growth of cells in the gland; if detected early, it is very much curable. Some early-stage symptoms of the disease are blood in the urine or semen, trouble urinating, and erectile dysfunction, and if you’re asking yourself, why you?

You could probably blame age, family history, or lifestyle choices. While we cannot change the ‘why’, we can master the ‘how’ of finding the right treatment in time. Step 1: Rule out the possibility of cancer with a simple Prostate-Specific Antigen (PSA) blood test.

In the last 10 years, technology and innovation have revolutionized the diagnostics and treatments of the disease. Scientists from across the world are working around the clock, making marked improvements in treating prostate cancer.

Multiple Sclerosis is a chronic and progressive neurological condition affecting an estimated 1.5–2 lakh people in India, and remains one of the country's most overlooked invisible disabilities.

Many of its symptoms, including fatigue, cognitive impairment, chronic pain, visual disturbances, and bladder dysfunction, are often not outwardly visible, contributing to delayed diagnosis, barriers to disability recognition, insurance challenges, and difficulties in accessing long-term care and support.

Declaration at National Policy Dialogue

In a significant step towards strengthening disability-inclusive healthcare and social protection in India, policymakers, neurologists, disability rights advocates, insurance stakeholders, and persons living with Multiple Sclerosis (MS) today endorsed a landmark 10-point Declaration on Invisible Disabilities and Gender at the National Policy Dialogue organized on the occasion of World Multiple Sclerosis Day 2026.

The National Policy Dialogue was held under the theme, "Shaping Policy. Advancing Access. Improving Lives."

"India has made significant progress in recognizing the rights of persons with disabilities, and conversations such as these are essential to ensuring that our laws, policies, and institutions continue to evolve in ways that better reflect the lived experiences of people affected by conditions such as MS," said Menaka Guruswamy, Member of Parliament, Rajya Sabha.

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Barriers to Care and Support

Experts from the Multiple Sclerosis Society of India (MSSI) stated that for people living with Multiple Sclerosis, the challenges often extend far beyond the disease itself.

Delayed access to insurance, high out-of-pocket costs, limited awareness of available entitlements, and the absence of comprehensive patient data continue to create barriers to timely care.

Thus, they expect the Declaration to catalyze stronger insurance inclusion, better access to support systems, and a more robust national understanding of the true burden of MS in India.

The 10-Point Declaration

The Declaration on Invisible Disabilities and Gender outlines a roadmap to strengthen implementation of the Rights of Persons with Disabilities (RPwD) Act, 2016, and improve the inclusion of invisible neurological conditions within India's healthcare, disability, and welfare systems.

Key recommendations include:

• Recognition guidelines for invisible and episodic disabilities under the RPwD Act.
• Flexible disability certification for people with fluctuating conditions.
• Inclusion of MS and other chronic neurological conditions within National Health Mission care pathways.
• Expansion of the Indian MS Registry Network (IMSRN) into a broader national invisible disability registry.
• Affordable access to disease-modifying therapies and long-term neurological care.
• Expanded tele-neurology services across India.
• Gender-sensitive diagnosis and treatment pathways.
• Stronger digital monitoring of disability rights implementation.
• Inclusive workplace policies for invisible disabilities.
• A National Mission on Invisible Disabilities.

Call for Stronger Policy and Healthcare Support

The declaration reflects a growing consensus among stakeholders that India's healthcare and social protection systems must evolve to better address invisible conditions that significantly affect an individual's functional ability, quality of life, and socioeconomic participation.

"Multiple Sclerosis is a complex, unpredictable, and lifelong neurological condition that requires early diagnosis, timely intervention, and sustained access to advanced therapies. While often simplified for patient understanding, the clinical reality is far more challenging and demands a nuanced approach to treatment and long-term care," said Dr. R.K. Dhamija, Distinguished Neurologist, Director, IHBAS, and Chair, National Task Force, NITI Aayog Brain Health Initiative.

"Investing in neurological care is not merely a healthcare expenditure; it is an economic imperative that helps prevent irreversible disability, reduces long-term care costs, and enables people to remain active and productive," Dr. Dhamija added.

For many people, tobacco does not begin as an addiction; it starts as a habit woven into ordinary moments of daily life. A cigarette shared with friends, a smoke break during a stressful day, or chewing tobacco after meals can soon become a routine that feels difficult to avoid.

While these habits may seem harmless in the beginning, tobacco slowly affects nearly every organ in the body, often giving subtle warning signs long before a serious disease is diagnosed.

When The Body Starts Giving Signals

These effects rarely manifest suddenly and usually come after years of prolonged use. It is this slow progress that leads most tobacco users to believe that "I am fine." But there are unmistakable signs of some diseases brought about by the use of tobacco that ought not to be dismissed:

• The Persistent Cough: A cough that has lasted for more than two to three weeks, becomes progressively worse each day, and is associated with a wheeze.

• Unexplained Fatigue: A person feeling breathless or unnaturally tired after having climbed a couple of stairs or walking a short distance can easily attribute this to general fatigue.

• Weight Fluctuations: The unexplained drop in weight can also be caused by some diseases that tobacco is likely to inflict upon the body.

Changes Inside the Mouth

Oral cancer caused by tobacco often appears initially in the form of persistent mouth ulcers, white or red patches inside the mouth, and jaw stiffness. These painful and irritating conditions can be so subtle that a person is not concerned by them.

Persistent changes like the change in your voice pitch or constant throat irritation are not to be taken lightly, either; they could be signs of deeper problems arising. Seeking medical help when it is still in the superficial stages will not only decrease your chances of being treated with aggressive measures but may actually result in an easier way to fight the condition.

Beyond Lungs: Other Effects of the Illness

Tobacco affects much more than just the lungs, and many symptoms associated with chronic conditions often go unnoticed.

• Cardiovascular Strain: Dizziness and chest heaviness are indications of heart problems caused by the presence of toxins in the body.

• Physical Discomfort: Headaches or leg edema may sometimes be seen as manifestations of blood vessel disorders.

The Untapped Power of Prevention

The most important remedy at our disposal is not a complicated surgery but an accurate identification of such conditions at their superficial stage, allowing for minimal and non-invasive treatments.

The human body is an incredibly powerful machine at healing, and the instant the consumption of tobacco ceases, a chain of events kicks off that increases circulation and improves lung function.

If you ever find yourself dealing with a persistent cough, mouth ulcer, or undue fatigue, it is advisable to visit a specialist at the earliest to prevent future complications.

(By Dr Yash Mathur, Senior Head, Neck, Oral, and Robotic Onco-Surgeon at HCG Cancer Hospital, Borivali, Mumbai)