What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

Updated Feb 7, 2025 | 08:00 AM IST

SummaryAlkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, cartilage damage, and skin discoloration. It has no cure but can be managed.
What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

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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.

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US Polo CEO Swears By 'No After-Hours Emails'; Expert Explains How Work-Life Balance Helps Prevent Burnout

Updated Jul 8, 2026 | 09:00 PM IST

SummaryUS Polo CEO J Michael Prince recently spoke about maintaining strict office hours boundaries to maintain work-life balance. Here's why this practice is essential for your mental well-being and preventing burnout.
US Polo CEO Swears by 'No After-Hours Emails'; Expert Explains How Work-Life Balance Helps Prevent Burnout

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What does it take to become a CEO? Decades of hustle and hard work. J Michael Prince, CEO of US Polo Assn., probably had the same idea. But after years of toiling away, he landed at a startling realization – he could have done it all without pushing himself to the limit. He recently opened up about the importance of work-life balance and setting aside time for yourself at the end of the day.

Work-Life Balance And Burnout

In a conversation with Fortune, Prince said that he now makes a conscious effort to avoid contacting his employees outside office hours unless it’s an emergency.

He said, “One thing I try to respect is—and this never really happened to me throughout my career—unless there’s something major going on, I try to leave people alone in the evenings, so you rarely ever get an email or text from me after the office.”

He spoke about the importance of personal time and allowing oneself to reset after a workday. “I leave the office, and I really try to respect people’s weekends, because I feel like that’s your family time, that’s your personal time, that’s your friendship time, that’s your time to reset, recharge spiritually, mentally, physically, emotionally,” he added.

HealthandMe spoke to Dr. Samant Darshi, Consultant- Psychiatrist & Neuromodulation Expert, Director - Psymate Healthcare, Noida, about the importance of maintaining work-life balance to prevent burnout.

Read more: Doctors Day: From Burnout To Work Anxiety, The Mental Health Struggle Doctors Rarely Talk About

The expert says that it is necessary to maintain a balance between work and life since it helps in enhancing health and well-being, reduces stress, increases productivity, and develops meaningful relationships. Maintaining a balance would lead to higher job satisfaction and happiness in life.

Dr Darshi says, “Work-life imbalance increases levels of stress and anxiety and causes emotional exhaustion. Persistent stress can result in depression, insomnia, hypertension, decreased immunity, and cardiovascular diseases. Lack of rest and time for leisure activities causes a loss of concentration and low self-esteem, thus making everyday life more stressful and challenging.”

Tackling Burnout

Prince admitted he didn’t always give importance to work-life balance. Earlier in his career, he regularly worked 90-hour weeks, stayed up through the night, and rarely slowed down. Looking back, he said he could have achieved the same goals without sacrificing so much of his health and time.

Prince said, “I could have eaten differently, I could have been a little more thoughtful about my sleep, about my routine around working out, my travel.”

According to Dr Darshi, work-life imbalance leads to a feeling of burnout. Experiencing constant stress, unrealistic expectations, and lack of time for leisure gradually exhausts physical and emotional resources. Eventually, motivation tanks, productivity drops, fatigue, detachment, frustration, and inability to function increase.

He explains, “Burnout adversely impacts the mental state of an individual by causing symptoms such as emotional fatigue, anxiety, depression, irritability, and hopelessness. It causes demotivation and loss of focus in addition to making individuals feel insecure. If not addressed, it may adversely impact personal relationships, affect work, and cause chronic health conditions.”

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World Allergy Day: Hidden Allergy Triggers At Home You May Be Overlooking

Updated Jul 8, 2026 | 05:00 PM IST

SummaryThe experts cautioned that chronic allergies should not be dismissed as a minor inconvenience, as they can affect sleep, respiratory health, and overall quality of life. They recommended consulting a healthcare professional if allergy symptoms persist for several weeks or throughout the year.
World Allergy Day: Hidden Allergy Triggers at Home You May Be Overlooking

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While many people blame pollen or changing weather for their allergies, health experts say hidden allergens inside the home may be just as responsible. On the occasion of World Allergy Day on July 8, doctors highlighted that dust mites, mold, pet proteins, and household products are among the often-overlooked triggers that can affect indoor air quality and contribute to persistent allergy symptoms.

They also cautioned that chronic allergies should not be dismissed as a minor inconvenience, as they can affect sleep, respiratory health, and overall quality of life.

What Is A Chronic Allergy?

Dr. Sanjiv Dang, ENT & Allergy Specialist, Apollo Hospitals, Delhi, told HealthandMe that allergy symptoms lasting for weeks, months, or throughout the year may indicate chronic allergies and should not be ignored.

He explained that "allergies occur when the immune system overreacts to substances such as dust mites, pollen, mold, pet dander, or certain foods, releasing histamine". This can lead to symptoms including sneezing, nasal congestion, a runny nose, itchy eyes, and throat irritation.

Hidden Allergens Go Beyond Pollen

Also read: UK Met Office Warns of 'Pollen Bomb': What Hay Fever Patients Need to Know

Prof. (Dr.) Dwaipayan Mukherjee, Consultant ENT Surgeon, Kolkata, told HealthandMe that flower pollen is often blamed for seasonal allergies, but it is usually not the main culprit because its grains are larger and less likely to remain airborne. Instead, he said most seasonal allergies are caused by microscopic airborne pollen from grasses, weeds, and trees.

Dr. Mukherjee, also the Past President of the Association of Otolaryngologists of India (AOI), added that homes can also harbor numerous microscopic allergens that negatively affect indoor air quality. Common triggers include:

  • Dust Mites
These microscopic organisms thrive in mattresses, bedding, carpets, curtains, and upholstered furniture, and their presence depends more on warmth, humidity, and skin flakes than on how clean a home appears.

  • Mold
Found in damp areas such as bathrooms, kitchens, basements, and laundry rooms, it releases airborne spores that can cause sneezing, nasal congestion, coughing, and eye irritation. Poor ventilation and excess moisture can make the problem worse.

  • Pet Proteins
Pet allergies are also frequently misunderstood. Dr. Mukherjee explained that pet fur is rarely the main cause of allergic reactions. Instead, proteins found in an animal's skin cells, saliva, and urine trigger symptoms and can remain suspended in the air or settle on furniture, clothing, and bedding.

    Household Products and Indoor Plants

Cleaning sprays, air fresheners, scented candles, and similar products may emit compounds that irritate sensitive airways and worsen allergy symptoms despite creating the impression of a cleaner environment.

Indoor plants can also become a source of allergens if mold develops in damp potting soil or if certain plants release pollen. Outdoor pollen from trees, grasses, and weeds can also enter homes on clothing, shoes, and hair before settling on indoor surfaces, the experts said.

How Persistent Allergies Affect Health

Read More: New HIV Vaccine Produces Powerful Virus-Fighting Antibodies; Human Trials Begin

Dr. Dang said chronic allergies are more than just a runny nose. Persistent nasal congestion can disrupt sleep, leading to snoring, frequent awakenings, daytime fatigue, poor concentration, reduced productivity, and mood changes.

He added that ongoing allergic inflammation can affect both the upper and lower airways. People with chronic allergies are at a higher risk of developing asthma, while those who already have asthma may experience worsening symptoms such as coughing, wheezing, chest tightness, and shortness of breath.

Chronic allergies can also block normal sinus drainage, increasing the risk of recurrent sinus infections. Facial pressure, headaches, post-nasal drip, persistent congestion, and a reduced sense of smell may all indicate allergy-related sinus problems.

How To Prevent Chronic Allergies

The experts advised relying solely on over-the-counter medications, saying they may provide temporary relief without addressing the underlying cause. They noted that prolonged use of certain nasal decongestant sprays can even worsen congestion over time, and also recommended consulting a healthcare professional if allergy symptoms persist for several weeks or throughout the year.

To help manage chronic allergies, the experts recommended:

  • Improving ventilation indoors.
  • Controlling indoor humidity.
  • Using HEPA air cleaners.
  • Cleaning the home regularly.
  • Eliminate excess moisture.
  • Identifying and reducing exposure to allergy triggers.
  • Controlling mold growth indoors.

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Challenge Your Brain To Keep It Young: New Study Says Learning Another Language Can Help

Updated Jul 8, 2026 | 11:47 AM IST

SummaryA new study says learning new languages requires attention, memory, problem-solving and cognitive control, all of which help in keeping the brain younger.
Learning Another Language May Help Slow Brain Ageing

Credit: AI

Learning a second or even a third language may do more than expand your communication skills. According to a new study presented at the Federation of European Neuroscience Societies (FENS) Forum 2026 in Barcelona, learning a new language could also help keep your brain younger as you age.

The findings of the study say that people who speak multiple languages have brains that appear biologically younger than those who speak only one language. The research added to the growing evidence that multilingualism has a beneficial effect on healthy cognitive ageing.

About The Study

To investigate how language affects the ageing brain, researchers analysed brain activity in adults living in Spain's multilingual Basque region.

They used magnetoencephalography (MEG), a non-invasive brain imaging technique that records the brain's electrical activity, along with artificial intelligence (AI) to ascertain each participant's brain age.

Rather than relying on a person's actual age, the AI model assessed how well different regions of the brain communicated with one another, a key marker that normally weakens with age.

Researchers first trained the AI using brain scans from 728 adults with varying language abilities before validating the findings in an independent group of 144 participants.

Read more: Normal Ageing or Alzheimer's? Doctors Explain Six Key Differences to Watch For

The results revealed an association between multilingualism and a younger-looking brain. Compared with people who spoke only one language, bilingual participants had brains that appeared around six years younger. Those who spoke three languages had brains that looked approximately seven years younger, while participants fluent in four languages had brains that appeared up to 13 years younger.

Researcher Lucia Amoruso, deputy scientific director at the Basque Center on Cognition, Brain and Language in San Sebastián, Spain, said, “In simple terms, people who spoke more languages tended to have brains that looked younger than expected for their chronological age.”

The researchers also found that language proficiency mattered. People who learned additional languages earlier in life and became more fluent showed even greater differences in brain age.

Is Multilingualism The Key To Keep Your Brain Younger?

Scientists believe speaking multiple languages provides the brain with a constant mental workout. Regularly switching between languages requires attention, memory, problem-solving and cognitive control, all of which strengthen the neural networks involved in thinking and decision-making.

This exercise may help maintain stronger communication between brain regions, increasing the brain's resilience against age-related decline.

While the team considered factors like age, sex, and education, multilingual individuals may also be more likely to engage in other habits that are beneficial for the brain.

Although the findings are encouraging, the researchers say that the study does not prove that learning another language directly slows brain ageing or prevents dementia. Experts say further long-term studies are needed to determine whether multilingualism can reduce the risk of neurodegenerative diseases such as Alzheimer's disease.

Despite the need for more research, scientists say the findings offer another compelling reason to learn a new language. Whether through formal classes, language-learning apps or everyday conversations, developing language skills could provide meaningful mental stimulation throughout life.

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