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.

The recently released National Family Health Survey-6 (NFHS-6) indicates a growing burden of lifestyle-related diseases such as obesity, hypertension, and high blood sugar levels in the country.

According to the NFHS-6, conducted during 2023–24, there has been a significant rise in non-communicable diseases (NCDs) and lifestyle risks in India, marking a shift from infectious diseases to chronic conditions.

Speaking to HealthandMe, Dr. Parmeet Kaur, former Chief Dietitian, Department of Dietetics, AIIMS, New Delhi, said rapid urbanisation, changing food habits and declining physical activity levels are contributing to the growing burden of NCDs.

She noted that factors such as the globalization of food habits, unhealthy snacking, increased consumption of processed foods, excess salt and sugar intake, stress, poor sleep and an ageing population are all playing a role in the rise of these conditions.

"The rise in non-communicable diseases is driven not just by excess calories, but by changing food systems and lifestyles," Dr. Kaur said.

She stressed the importance of promoting traditional balanced diets, healthy snacks, regular physical activity, maintaining a healthy body weight, adequate sleep and greater reliance on home-cooked meals.

NCD Burden Rising In Younger Age Groups

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Dr. Rakesh Gupta, Senior Consultant, Internal Medicine, Indraprastha Apollo Hospital, Delhi, said the latest NFHS-6 findings point to a growing burden of metabolic risk factors across the country, including among younger age groups.

"In many cases, these conditions develop silently and remain undiagnosed for years," Dr. Gupta said.

He emphasized that tackling the problem requires shifting the focus beyond weight management alone to overall metabolic health.

How To Prevent

To prevent these conditions and identify risks at an early stage, Dr. Gupta told HealthandMe that the following measures are important:

• Regular physical activity

• Healthy eating habits

• Adequate sleep

• Stress management

• Routine health screenings

Dr. Kaur also called for strengthening nutrition education, increasing awareness about food labels and encouraging early screening for diabetes and hypertension.

"Re-emphasizing traditional and regional healthy eating patterns alongside active living will be crucial for India's future health," she added.

What Did NFHS-6 Say On NCDs?

The NFHS-6, conducted during 2023–24, covered more than 7.1 lakh women and over one lakh men across the country.

Obesity

• Obesity among women increased from 24 per cent (2019–21) to 30.7 per cent (2023–24). Urban women recorded a higher prevalence (42.8 per cent) than rural women (25.5 per cent).
• Obesity among men rose from 22.9per cent to 27.3per cent during the same period. Urban men (36.3per cent) were more affected than rural men (23 per cent).

• High blood sugar prevalence among men aged 15 years and above increased from 15.6 per cent to 20.9 per cent.
• Urban women (21.9per cent) reported higher prevalence than rural women (16.2per cent); with total prevalence among women increasing from 13.5 per cent to 17.8 per cent.

High Blood Pressure

• Among women, high blood pressure prevalence stood at 23.5 per cent in urban areas and 17.8 per cent in rural areas.
• Among men, the prevalence was 26.2 per cent in urban areas and 20.4 per cent in rural areas.

"The emerging challenges such as rising non-communicable diseases, lifestyle-related risks and the dual burden of undernutrition and rising overweight/obesity among adults highlight the need for continued focus on preventive healthcare, behavioral change and balanced nutrition strategies," the Health Ministry said.

Oral cancer cases are on the rise because of tobacco chewing, smoking, alcohol consumption, poor oral hygiene, and delayed medical attention. Many people ignore small red or white patches, which are early warning signs of cancer and should never be overlooked. There is an average delay of six months in cancer diagnosis, which is the reason patients are diagnosed with stage 3 and 4 cancers.

Dr Prathamesh Pai, Senior Consultant Head and Neck Surgical Oncologist, Gleneagles Hospital, Parel, Mumbai, explained the difference between red and white patches in the mouth and what they may indicate about your health.

Red vs White Patches in the Mouth

White patches inside the mouth are called leukoplakia, while red patches are known as erythroplakia. Both can occur on the tongue, gums, inner cheeks, or floor of the mouth. Though both need equal attention, red patches are more dangerous, with a higher risk of being cancerous in comparison to white patches. Red patches in the mouth indicate severe abnormal cellular changes, which can develop into precancerous conditions or cancer. Around 60% to 80% of erythroplakias are diagnosed as early-stage cancer on biopsy.

What is erythroplakia?

Erythroplakia is a fiery red, well-defined patch in the mouth. These lesions are velvety in appearance. They often appear on the floor of the mouth or the retromolar trigone (the area behind the wisdom teeth). Red patches often go unreported, as they are mistaken for traumatic mouth ulcers caused by hard foods or dental irritation.

If a red patch does not heal within two to three weeks, it should raise concerns about cancer. Besides the duration, patches that bleed on touch, are painful while eating, are associated with a burning sensation, difficulty swallowing, loosening of teeth, or voice changes should be investigated. Tobacco users should be even more mindful. Ignoring persistent red or white patches can allow the disease to progress silently.

So, make sure to seek immediate help and consult a doctor. For anyone presenting with red or white patches, the doctor will carry out a physical oral examination and a biopsy, in which a small tissue sample is taken from the patch for evaluation. A CT scan and MRI may also be advised, depending on the location of the patch and other clinical features.

Why early detection of cancer matters

Remember, early detection of cancer is curable. Treatment is also less extensive, often involving minor intraoral surgery and preservation of speech and swallowing functions. As the cancer stage advances, surgery may require the removal of parts of the cheek, jaw, or tongue, as well as postoperative radiotherapy. This affects the face and neck and hampers important functions such as eating, speaking, and swallowing. This has major implications for quality of life. Treatment can also be a financial burden, especially for younger patients.

Take charge of your life. Lead a happy, healthy life. Avoid tobacco, alcohol, and other addictions. Visit your dentist regularly and maintain good oral hygiene. Prevention is better than cure. In the case of any non-healing ulcers in the mouth, swelling in the neck, altered speech or swallowing, or altered bowel habits for more than two weeks despite treatment, do visit a doctor. Remember, early detection of cancer is curable.

Supplements like calcium and vitamin D are very popular among the masses due to the perception that they can help prevent fractures. A major study has shattered this common belief, which in turn claims that these supplements have no role whatsoever in falls and bone fractures. The British Medical Journal (BMJ) has published this landmark research.

The trial of this study studied data from 2014 to February 2025, where their database consisted of three sources, namely Medline, Embase, and CENTRAL.

The independent researchers in pairs monitored the trial, extracted data, and assessed risk of bias using the second version of Cochrane’s risk of bias tool. The results of the study were synthesized and appraised.

This study consisted of 69 trials, which were participated in by 153,902 participants. Most of the participants, 73% to be exact, were at no high risk of falling and fracturing. The results were that Calcium, Vitamin D, or Combined Supplements have little to no effect on fractures. This primary finding was ensured due to the high certainty of evidence.

The extensive exploration made the study robust and was based on heterogeneity across multiple subgroup analyses. The evidence from high-risk patients was limited due to residential care, calcium monotherapy, and combined supplementation.

Read Also: Calcium, Vitamin D Do Not Guarantee Protection From Fractures And Falls, These 8 Things Do!

Better Ways To Protect Your Bone Health

USPSTF recommends a few better ways to protect your bone health and prevent broken bones and falls.

Walk Regularly

Regular walks strengthen your muscles and bones, which helps you stay steady on your feet. It is as simple as practice makes perfect, so the more you walk, the better it is. Walking also improves your balance, making you less likely to fall.

Do Strength Training

Strength training, like lifting weights or using resistance bands, makes your bones stronger and helps prevent fractures if you do fall. It is like a safety cushion, but you must be careful while doing so because it can lead to injuries if done too much.

Practice Balance

Activities like tai chi, Pilates, and yoga can improve your balance and coordination, making you more stable and less prone to falls. These can also help you improve your muscle flexibility and strength, which in turn helps your body be stronger.

Read Also: Tomato-Soy Juice May Reduce Chronic Inflammation, New Study Says

Check Your Medicines

If you have osteoporosis, talk to your doctor about medications that can help strengthen your bones and lower your risk of fractures. Many medications can also have unsavory side effects like weakened joints, loss of muscle strength, etc.

Eat Enough Protein

A proper diet goes a long way when it comes to your entire body's health. So to keep up with your body’s nutrition and muscle health, eat more protein along with a balanced meal that includes loads of fiber, healthy fats, and carbs.

Get Your Eyes Checked

Having poor eyesight can be difficult; not only does it make life difficult without glasses, but it also increases the possibility of getting into minor accidents like bumping into people and missing objects placed in front of us.

Get Enough Sleep

Getting enough sleep is also important because when you are not sleeping, you get disoriented and can ignore even obvious things like the last step in the staircase. Make sure you get enough sleep to keep you fresh and focused.

Make Your Home Safe

Many things can cause you to have accidents, even in your home. To avoid such falls, make sure there are no loose ends like crooked floor panels, rugs that are sticking out, or protruding furniture that can hurt your knees.