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

Image Credit: Canva

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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Delhi Air Pollution: Feeling Anxious As AQI Rises? Experts Explain The Mental Health Toll Of Breathing Toxic Air

Updated Nov 4, 2026 | 09:32 PM IST

SummaryAs people in Delhi breathe in toxic air amid rising AQI everyday, experts help us understand how air pollution fuels anxiety, stress, and depression.
Delhi Air Pollution: Feeling Anxious As AQI Rises? Experts Explain The Mental Health Toll Of Breathing Toxic Air

Credit: AI

Ahead of Diwali festivities, Delhi is once again battling its annual air pollution crisis. The city's air quality index (AQI) - which measures PM2.5, fine particulate matter, has crossed 500 in some regions, entering the "hazardous" category, raising health concerns for millions in the capital.

The effects of air pollution are not just limited to physical health. Apart from your lungs and heart, long-term exposure to toxic air can render you feeling anxious, stressed, demotivated and mentally fatigued.

The reason behind this is not one-fold. The worsening of mental health due to air pollution is a culmination of many factors.

From particulate matter triggering inflammation and negatively affecting the body’s stress response to restrictions on outdoor activities, disturbance in sleep and lack of physical activity, air pollution contributes to mental health burden in many ways.

Dr Varsha Viswanathan, psychiatrist at Athulya Senior Care and Athulya Geriatric Care Hospital, Chennai, told HealthandMe that particulate matter in polluted air can enter the bloodstream and trigger inflammatory responses.

She explained, “This may lead to oxidative stress and affect brain functions involved in mood regulation, attention, memory and emotional processing. Over time, these changes may contribute to increased irritability, mood disturbances and difficulty managing emotional responses.”

Air Pollution & Stress

Also read: Climate Crisis Is A Health Crisis: Just 6 Actions Could Save 1.6 Million Lives, Says WHO

PM2.5, consists of tiny airborne particles that can penetrate into the lungs. Some can even enter the bloodstream and cause inflammation and oxidative stress. These effects may also affect the brain and its functions.

Cortisol is a hormone related to the body’s response to stress. Changes in stress regulation due to pollution may make it harder for some individuals to manage everyday challenges. Dr Viswanathan explains that air pollution may also affect the body’s stress-response system.

“Repeated exposure to environmental pollutants can affect the regulation of stress hormones such as cortisol. This may increase physiological stress and contribute to symptoms such as restlessness, heightened alertness, difficulty relaxing and persistent feelings of tension,” she says.

Air Pollution & Anxiety

Also read: Air Pollution In Delhi: Experts Warn Of Red Eyes, Itching, Watering In Children

Apart from stress, living in highly polluted cities can also cause one to feel constantly uncomfortable, uncertain and anxious. Kakul Faruqi, Senior Consultant Psychologist at LH Hiranandani Hospital, Mumbai, told HealthandMe that pollution can become a source of fear and withdrawal.

She said that someone who is prone to anxiety, breathing difficulty may be interpreted as a sign of immediate danger, which could trigger further fear and distress.

“Psychologically speaking, pollution can be a source of discomfort, fear and withdrawal. A coughing fit, trouble breathing and insomnia can exhaust an individual, making it more difficult for him or her to cope with daily stresses. An individual who is susceptible to panic attacks can experience fear and negative interpretations of physical symptoms due to trouble breathing,” Faruqi explains.

She also said that repeated exposure can also make the threat feel inescapable. Faruqi says that when individuals perceive pollution as a problem beyond their control, the resulting uncertainty can become extremely overwhelming.

Lack Of Outdoor Time May Contribute To Depression

Also read: Supreme Court Allows Green Crackers In Delhi-NCR Ahead Of Diwali: Are They Really Safe For Your Health?

Faruqi explains that pollution can make it harder to engage in behaviours that support psychological health.

When pollution levels are high, people normally avoid spending time outside socialising, exercising, walking, and spending time in green spaces. These activities often provide opportunities for physical movement, social connection and relaxation. Missing out on these activities can affect one emotional and mental well-being.

“The reduction in outlets for relaxation, in addition to experiencing feelings of loneliness and frustration, can lead to depression,” she says.

Dr Viswanathan also highlights how poor air quality can disrupt sleep, physical activity and normal social routines, which could further worsen mental well-being.

“Inadequate sleep and reduced physical activity can, in turn, affect emotional regulation, concentration and the ability to cope with everyday stress,” she says.

How To Protect Your Mental Health When AQI Is High?

When AQI is high, it is important to reduce exposure but at the same time, maintaining routines that help psychological well-being is also important. Faruqi recommends checking air quality in one’s locality, adjusting exercise habits accordingly and making an effort to preserve sleep and social interaction.

Some practical measures include:

  • Adjust outdoor activities: Check local air quality levels and move exercise indoors when pollution is high. Avoid strenuous outdoor activity during severe pollution.
  • Maintain physical activity: Indoor exercise can help preserve movement and routine when outdoor conditions are unsuitable.
  • Protect sleep: Maintain regular sleep and wake times, and reduce indoor pollution where possible.
  • Stay socially connected: Continue interacting with friends and family, even when outdoor meetings are difficult.
  • Limit repeated pollution checking: Stay informed through reliable sources, but avoid continuously monitoring pollution levels without taking practical steps to reduce exposure.
  • Seek professional support: Constant anxiety, depressive symptoms or difficulty carrying out everyday activities should not be ignored.

Faruqi advises that “if one experiences persisting anxiety, depression, or impairment in functioning, a visit to a mental health professional would be advisable.”

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Australia Approves First GLP-1 Weight Loss Pill: How It Works & Who Is Eligible

Updated Nov 4, 2026 | 08:30 PM IST

SummaryThe Therapeutic Goods Administration (TGA) recently approved the sale of Wegovy, Novo Nordisk's GLP-1 weight loss pill, in Australia for eligible users.
Australia Approves First GLP-1 Weight Loss Pill: How It Works & Who Is Eligible

Credit: AI

Novo Nordisk’s GLP-1 weight loss pill, Wegovy, has been approved in Australia for sale. An alternative to weekly weight loss injections, the Therapeutic Goods Administration (TGA) has cleared Wegovy, which contains semaglutide, the same active ingredient found in GLP-1 weight loss injections: Wegovy and Ozempic.

The pill received TGA approval on November 3, 2026, and is expecting to reach the shelves by Christmas.

It is prescribed to eligible adults to help manage chronic obesity along with lifestyle changes. It is also approved to reduce the risk of major cardiovascular events in eligible patients.

Until now, Australians seeking GLP-1 medication for weight management have primarily had access to injectable formulations. The tablet offers a different approach.

How Does The Wegovy Weight Loss Pill Work?

Also read: Eli Lilly Can Continue Zepbound Ads Despite Novo Nordisk’s Claims Over Weight-Loss Drug Comparisons

The new tablet contains semaglutide, a GLP-1 receptor agonist that mimics the action of the naturally occurring glucagon-like peptide-1 hormone.

GLP-1 medications act on appetite regulation. They help users feel full, reduce cravings and slow stomach emptying, which can lead to lower calorie intake and weight loss.

Unlike injectable Wegovy, which is administered once a week, this tablet should be taken every day.

The TGA has approved four tablet strengths for sale: 1.5 mg, 4 mg, 9 mg and 25 mg. Treatment starts at a lower dose, which is gradually increased over approximately 16 weeks under medical supervision. The tablet also has specific use requirements. Patients must:

  • Take it first thing in the morning on an empty stomach.
  • Swallow it with a small amount of water.
  • Avoid eating, drinking or taking other oral medications for at least 30 minutes afterwards.

The fasting instructions are important because semaglutide is absorbed less efficiently when taken orally. So following that instruction is crucial as a 25 mg tablet has to achieve an effect comparable to the 2.4 mg weekly injectable Wegovy dose.

Eligibility For GLP-1 Weight Loss Pill In Australia

Also read: Is ‘Ozempic Face’ Influencing The Beauty Industry? Global Cosmetic Brand Highlights A New Trend Amid GLP-1 Boom

The TGA approval covers adults who meet specific weight-related criteria. These include:

  • Adults with obesity, defined as a body mass index (BMI) of 30 or higher.
  • Adults who are overweight, with a BMI between 27 and 30, and have at least one weight-related health condition.

These conditions may include high blood pressure, abnormal cholesterol levels, type 2 diabetes, fatty liver disease or other weight-related complications.

The medication is also approved to reduce the risk of major adverse cardiovascular events in eligible adults with cardiovascular disease and those who are overweight or obese but don’t have diabetes.

However, approval does not mean everyone meeting these criteria should automatically take the medication. A doctor must assess your health, medical history, and risks before prescribing it.

Dr Brendan Hanrahan, an obesity medicine specialist at Brisbane's Wesley Hospital, welcomed wider access to the medication, saying GLP-1 drugs have "lived up to and exceeded the hype". However, he questioned whether BMI alone is enough to determine eligibility.

He suggested waist circumference could offer some information about health risks, saying that some people may experience complications related to weight even when their BMI falls within the ‘normal’ healthy range.

Side Effects And Risks Of Wegovy

The oral pill does not eliminate the side effects associated with semaglutide. Common adverse effects include:

  • Nausea
  • Vomiting
  • Diarrhoea
  • Constipation
  • Abdominal discomfort
  • Headache
  • Fatigue
  • Dizziness

Gastrointestinal symptoms can sometimes lead to dehydration, which may increase the risk of kidney problems.

The TGA also warns about more serious complications, including acute pancreatitis and diabetic retinopathy. People with diabetes, particularly those with pre-existing eye disease, may need clinical monitoring.

Semaglutide is not recommended during pregnancy, and people planning to become pregnant should discuss treatment and timing with their doctor.

The TGA has also warned of depression and suicidal thoughts or behaviours linked with GLP-1 medications.

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Early Breast Cancer: How to Make Space for Treatment Without Losing Sight of Yourself

Updated Nov 4, 2026 | 03:00 PM IST

SummaryAn early breast cancer diagnosis can bring emotional, physical and practical challenges, even when treatment outcomes are encouraging. Explore how women can navigate treatment while maintaining their identity, relationships, work and emotional well-being, and why supportive care matters throughout the cancer journey.
Early Breast Cancer: How to Make Space for Treatment Without Losing Sight of Yourself

Credit: AI

A breast cancer diagnosis can change more than a woman’s immediate health priorities. Suddenly, appointments, treatment decisions and medical advice become part of everyday life, alongside work deadlines, family responsibilities, relationships and personal plans. Even as women focus on getting better, questions about how treatment might affect their routines, independence and future can be difficult to navigate.

For women diagnosed with early breast cancer, treatment offers an opportunity to address the disease and reduce the risk of it returning. But the experience is about more than medical outcomes alone. How women feel during treatment, the support available to them and their ability to continue doing the things that matter to them are also important considerations.

Treating early breast cancer involves looking beyond the immediate diagnosis to understand what matters to each patient. While our priority is to recommend treatment that offers the best possible clinical benefit, it is equally important to discuss how treatment may affect everyday life, from managing side effects to maintaining relationships and planning for the future. By encouraging open conversations about advanced therapies and addressing patients’ concerns early, we can help women make informed decisions while supporting their quality of life throughout the treatment journey.

Here are four ways women can approach treatment while keeping their personal well-being in focus.

1. Make your everyday life part of the treatment conversation

Breast cancer treatment can affect everyday life in different ways, from recovery after surgery to managing side effects or making time for regular appointments. For women balancing work, family responsibilities and personal commitments, understanding what treatment involves can help them plan ahead and arrange the support they need.

Advances in breast cancer care have expanded treatment options for eligible patients, with some targeted therapies offering a more tailored approach that may help reduce certain treatment-related side effects. Understanding the potential benefits and impact of each option on quality of life can help women make informed decisions with their oncologist. Discussing how treatment may affect daily routines, energy levels and recovery can also help women plan for the journey ahead while continuing to prioritise what matters to them.

Also read: Unspoken Side Of Breast Cancer: Experts Discuss Recurrence Risk, Emotional Toll & Societal Impact At Times Health Summit 2026

2. Prepare for physical changes rather than waiting for them to become overwhelming

Breast cancer treatment affects every woman differently. Depending on the therapy, side effects may include fatigue, nausea, joint pain, sleep disturbances or changes in hair and weight, potentially making everyday activities more challenging.

Women should discuss potential side effects with their healthcare team and seek advice early on, as appropriate interventions can help manage symptoms. Gentle physical activity, a balanced diet and adequate rest may also support overall well-being, depending on individual needs and medical advice. The goal is to find a manageable routine that supports recovery and quality of life without putting every other aspect of life on hold.

3. Give emotional well-being, relationships and personal plans the same consideration

The emotional impact of breast cancer can be as significant as the physical effects. Uncertainty about the future, changes in body image and concerns about loved ones can affect emotional well-being. Talking to trusted friends, joining a support group or seeking professional guidance can help women navigate these challenges, while open conversations with family can make it easier to ask for support.

Personal concerns, including fertility, intimacy and sexual health, also deserve attention. Women should discuss these with their healthcare team before treatment begins, particularly when fertility preservation may be an option. Addressing these concerns early can help women understand their choices and ensure their emotional well-being and personal priorities remain part of the treatment journey.

Also read: Hot Flashes To Night Sweats: Leading US OB-GYN Group Updates Menopause Treatment Guidance After 12 Years

4. Keep the future in view while focusing on the present

Looking beyond initial treatment can help women prepare for the next stages of care. Depending on the cancer’s characteristics, doctors may recommend additional treatment to reduce recurrence risk, with some women continuing medication for several years. Understanding the purpose, expected benefits and duration of treatment can help women plan ahead.

Regular follow-up appointments remain important for monitoring recovery and addressing new symptoms or ongoing side effects. If treatment becomes difficult to manage, women should speak to their healthcare team, who may suggest ways to manage symptoms or explore suitable alternatives. Staying informed about the care plan can help women look ahead with greater confidence while prioritising their long-term health and quality of life.

Making room for the life beyond the diagnosis

An early breast cancer diagnosis can bring uncertainty, but it does not erase the other parts of a woman’s life. Work, relationships, family, personal ambitions and everyday pleasures remain important, even while treatment becomes a priority.

Making space for these aspects of life starts with asking questions, communicating concerns and seeking support before challenges become overwhelming. Clinical outcomes and recurrence risk remain important considerations, but so does the experience of living through treatment.

The goal is not to manage every aspect of the journey perfectly. It is to ensure that women have the information, care and support they need to navigate treatment in a way that considers both their health and their quality of life.

By Dr. Sachin Sekhar Biswal, Consultant Medical Oncologist, Manipal Hospital, Bhubaneswar

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