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 globally introduced, newer-generation cataract lens was used in India for the first time, enhancing patient’s recovery journey and treatment outcome

Since her diabetes diagnosis 5 months ago, Mrs Vani Vaish had done what doctors tell every diabetic to do - turn up regularly for an eye exam because diabetes can quietly damage the blood vessels and nerves in your eyes. The eye damage often gives no major noticeable warning until real damage has been done, which is exactly why the screening isn't optional, symptoms or not.

How A Routine Eye Check-Up Revealed A Cataract

During one of these routine visits, Mrs Ahuja complained of blurring in her vision and increasing glare around headlights and streetlamps at night. Her ophthalmologist identified a cataract. For people living with diabetes, regular eye examinations can be important for more than monitoring diabetic retinopathy, as diabetes can also increase the risk of developing cataracts and may lead to their occurrence at a younger age.

The treatment options were discussed with her in detail, including the potential benefits and limitations of the technology, individual variations in outcomes and the considerations involved in selecting a presbyopia-correcting lens. Following a detailed evaluation, Mrs Ahuja underwent cataract surgery with implantation of the Clareon PanOptix Pro, a newer-generation trifocal intraocular lens that had recently become available in India.

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What The Newer-Generation Lens Is Designed To Do

The significance of the technology lies in what it is designed to change in cataract vision correction. Trifocal lenses split incoming light to provide vision across near, intermediate and distance ranges. The newer-generation optical design used in PanOptix Pro is intended to use available light more efficiently and reduce light scatter — an advancement that aims to support better quality of vision across different distances while addressing some of the visual compromises associated with multifocal lens technology.

Because no two patients have the same visual demands, expanding access to newer technologies plays a critical role in modern care. Our role is to evaluate each patient’s unique needs and ensure that the most suitable and advanced treatments available actually reach the patient, giving them every opportunity for a better quality of life.

The procedure marked the first use in India of the globally introduced Clareon PanOptix Pro lens. For MRs Vaish, the outcome of the treatment has matched what she hoped for. She reports clear vision and no floaters or other visual disturbances. Her recovery has also been smooth, and she has not even needed the temporary protective glasses in the days following the procedure.

Why Regular Eye Exams Matter For People With Diabetes

Her case highlights two important aspects of modern eye care. Regular eye examinations are important especially for people living with diabetes. A routine screening intended to monitor retinal health can also help identify other conditions affecting vision, including cataracts.

It also demonstrates that access to advanced medical technologies can significantly expand treatment possibilities and enhance the patient's recovery journey. When newer innovations are combined with careful clinical evaluation and personalised decision-making, they can help doctors move beyond a one-size-fits-all approach to treatment and offer patients options better suited to their individual visual needs and lifestyles.

By Dr Sudipto Pakrasi, Chairman, Ophthalmology, Medanta Mediclinic Defence Colony

Major sporting events such as the IPL, FIFA World Cup, Olympics and Asian Games have become powerful platforms for brands to promote unhealthy products through sponsorships, endorsements and social media.

In an exclusive interview with HealthandMe, Dr. Robin Ireland, public health activist and honorary research fellow at the University of Glasgow, UK, discussed how the commercialization of sport has helped normalize junk food, sugary drinks and alcohol, and its impact on children “who may not always recognize the difference between advertising and fact”.

“It's an awful lot healthier to play sport than to watch it, because sport is now associated with junk food, sugary drinks and alcohol,” he said.

Excerpts from the interview

Q: How does unhealthy-product marketing in sport affect children? And do “zero sugar” or “alcohol-free” labels change that?

Dr. Robin: I think it has a huge impact. Worldwide, we're seeing major problems with overweight and obesity from a very early age, as well as type 2 diabetes. Many causes of cancer and heart disease are preventable through healthier lifestyles, yet we're constantly being promoted things that aren't good for us.

Alcohol companies often promote alcohol-free products. In India, I'm aware of surrogate marketing, where alcohol companies produce packaged drinking water using the same brand, colourway and distribution networks. So it's hardly surprising these brands are normalised to young people. Even where alcohol advertising is banned, alcohol can still be heavily promoted.

A lot of this comes down to what we eat, but very specifically what we drink — alcohol, sugary drinks and now energy drinks. For most of us, we're much better off drinking water.

Q: Does elite sport give sugary drinks, fast food and alcohol a “health halo”?

Dr. Robin: Sport presents glamour and excitement, and children look up to big performers and superstars who often promote products they probably don't consume themselves because they're not good for sporting performance. Yet their names and images are used to create that excitement and, as you described, a health halo.

Brands want to be associated with that healthy image. Athletes think that if they want to perform like a Sachin Tendulkar or another superstar, they need a sports drink or energy drink. And of course, they don't. But that's what the brands are trying to do.

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Q: Cristiano Ronaldo famously pushed away a soft drink and asked for water. Where should athletes and sports bodies draw the line on unhealthy-product sponsorships?

Dr. Robin: It was one of those iconic moments, wasn't it, where he pushed the sponsored bottle away and said, “Agua.” The line is difficult for sportspeople. I don't necessarily want to blame them. It's the rules set by the governing bodies. I've just looked up the IPL sponsors, and you immediately find cola brands across the teams and on shirt branding. It's everywhere.

So it's hard to criticise individual athletes. Some earn huge sums of money, so perhaps it would be nice if one or two took the Ronaldo position. There are also athletes who, because of their religion, will not drink alcohol or associate themselves with alcohol products.

But I think it's the governing bodies. How have we allowed this to happen? This deluge of sugary drinks at a time when we have high levels of type 2 diabetes and children living with overweight and obesity. It's really wrong.

Q: What can sport learn from the ban on tobacco advertising when regulating alcohol, sugary drinks and ultra-processed foods?

Dr. Robin: The short answer is I believe yes, but I think we're quite a long way from that. I grew up with tobacco advertising all over the place, particularly in cricket and F1. I remember F1 saying, “We're not going to be able to survive without tobacco advertising.” They were basically mobile tobacco packet ads with Marlboro ads on the cars going past; it was completely absurd. And we've got rid of it.

That was partly through the World Health Organization Framework Convention on Tobacco Control. We simply have to take these things much more seriously.

I get very cross with people who say we couldn't survive without this. I love sport, but I think we probably could. Across pretty much all sport, there is a lot of money coming in from other places. We don't have to be dependent on junk food and alcohol. It's completely inappropriate.

Read More: High Sugar, Salt Or Fat? India May Mandate Red Hexagon Labels On Food Packs

Q: Are food labels enough, or should sports advertising also be restricted?

Dr. Robin: Labelling helps, but it's only part of the solution. Not everybody has the time or resources to read labels, and people will still buy what they can afford and what is accessible.

In the UK, we've had some advertising controls, but as we saw with tobacco, sport does its own thing. Sport seems to be allowed a free ride.

In India and the UK, sport is huge, and politicians are in love with it. Advertising, particularly for junk food, is everywhere. Sport will find a way around restrictions unless it's specifically mentioned. In India, you're not allowed to have alcohol advertising, but sport seems to have found a way around it.

We need to take regulation more seriously and recognise that people will find ways around it. It has to be robust to work.

Q: What would effective regulation of unhealthy-product marketing in sport look like?

Dr. Robin: We could be talking about that a long time, so let's come up with one or two manageable measures. I don't think sugary drinks companies or alcohol should be named in event titles. I also don't think brands should appear on the front of shirts or uniforms.

You can also have rules around advertising when events are broadcast. In the UK, we've taken steps around gambling. In the English Premier League, gambling brands have been removed from the front of shirts, and gambling ads can't be shown during the advertising break in the middle of games. It's a limited move, but it's a start.

The IPL has a cola sponsor and a packaged drinking water sponsor that happens to be an alcohol brand. We need to get away from that. It's inappropriate. The Asian Games, interestingly, has 62 sponsors. As far as I can tell, only one is particularly unhealthy, and I'd rather they weren't there either, because it's an official hydration partner that is yet again a sugary drink. But it shows there are people willing to support sport outside these industries, and we perhaps need to look at them more.

For many Indians, especially those with busy work schedules, a morning cup of tea or coffee has become a daily necessity. From a quick cup before heading to work to coffee breaks during long office hours, caffeine is now a regular part of urban routines. But this habit may have implications for digestive health.

For most healthy people, moderate coffee consumption can be part of a normal diet. In some individuals, however, it may lead to symptoms like heartburn, acidity, abdominal discomfort, bloating, or an increased urge to pass stools.

Coffee can affect the digestive system in multiple ways. It is known to stimulate the secretion of gastric acid and increase movement in the colon. This is why some people feel the need to use the toilet shortly after having coffee. The intensity of these effects varies from person to person.

The link between coffee and gastroesophageal reflux disease, or GERD, is often discussed. Coffee may worsen reflux symptoms in certain people, although research findings have not been entirely consistent. A 2026 systematic review and meta-analysis involving over 122,000 people found a small statistical increase in GERD among coffee drinkers, but the clinical significance of this association is still considered uncertain.

This suggests that not everyone with acidity needs to stop drinking coffee altogether. It is more important to observe whether coffee consistently triggers symptoms. Factors such as the quantity consumed, the timing of consumption, individual sensitivity, and what is added to the drink can all play a role.

In India, people often drink coffee with generous amounts of sugar, milk, or cream. For some people, these additions may contribute to digestive discomfort. Drinking several cups a day can also increase overall caffeine intake, which may aggravate symptoms in sensitive individuals.

Rather than blaming coffee entirely for digestive issues, it helps to identify individual triggers. If coffee repeatedly causes heartburn or other discomfort, it may be sensible to reduce intake and consult a gastroenterologist for guidance.

The stimulating effect of coffee on intestinal movement, which leads to a bowel movement soon after the morning cup for some, is not necessarily a sign of an unhealthy gut.

However, persistent symptoms such as frequent heartburn, difficulty in swallowing, repeated vomiting, unexplained weight loss, ongoing abdominal pain, or a significant change in bowel habits should not be attributed to coffee alone and require proper medical evaluation.

Dr. Pradipta Kumar Sethy, Director, Gastroenterology, Manipal Hospitals, EM Bypass and Mukundapur