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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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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The New Chapter After Cancer: Focusing On Wellness And Quality Of Life

Updated Jul 8, 2026 | 10:00 AM IST

SummaryThe goal is no longer to eliminate cancer cells, but to create a life that feels fulfilling and meaningful. Survivors are encouraged to focus on three things treatment itself cannot provide: strength, joy, and a renewed sense of control.
The New Chapter After Cancer: Focusing On Wellness And Quality Of Life

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Completing cancer treatment is often imagined as the moment life returns to normal. The final chemotherapy session ends, follow-up scans show encouraging results, and the long-awaited words, “You’re in remission,” bring immense relief. Family and friends celebrate the milestone, expecting life to pick up where it left off.

Yet for many survivors, the end of treatment marks the beginning of a different journey. The hospital visits may become less frequent, but new questions often take their place. Will energy levels ever return? Is it normal to still feel anxious before every check-up? How does one rebuild a life that has been profoundly changed by illness?

Life After Cancer

Life after cancer is not simply about surviving; it is about learning to live well again. This phase is an opportunity to focus not only on physical recovery but also on emotional healing, meaningful relationships, and rediscovering a sense of purpose. Survivorship is not defined by the absence of disease alone; it is measured by the quality of life that follows.

During treatment, every decision revolves around cancer. Appointments, medications, scans, and side effects dominate daily life. Once treatment ends, the focus gradually shifts from fighting the disease to rebuilding health and well-being. This transition, often referred to as survivorship care, is about moving from crisis management to long-term wellness.

The goal is no longer simply to eliminate cancer cells, but to create a life that feels fulfilling and meaningful. Survivors are encouraged to focus on three things treatment itself cannot provide: strength, joy, and a renewed sense of control.

Quality of life after cancer extends far beyond follow-up scans and medical reports. It encompasses physical, emotional, social, and practical well-being. Paying attention to each of these areas can help survivors thrive rather than merely cope.

Physical Recovery After Cancer Treatment

Physically, the body often needs time to recover from the effects of chemotherapy, surgery, radiation, or hormone therapy. Fatigue, reduced stamina, neuropathy, weight changes, and muscle loss are common challenges. Regular movement plays a critical role in recovery.

Experts recommend at least 150 minutes of moderate exercise each week, along with two sessions of strength training to rebuild muscle and improve energy levels. For survivors experiencing lymphedema, pelvic floor concerns, or mobility limitations, working with a physiotherapist can provide targeted support. A balanced diet rich in protein also helps restore strength and independence.

Emotional Recovery Post Cancer Treatment

Emotional recovery deserves equal attention. Fear of recurrence, anxiety before follow-up scans, survivor's guilt, and grief for the life that existed before diagnosis are all common experiences.

These feelings are not symptoms of weakness; they are natural responses to a life-changing event. Seeking support from a psycho-oncologist, counsellor, or support group can significantly improve emotional well-being. Even simple practices such as mindfulness, journaling, or spending a few quiet minutes each day focusing on the present moment can help reduce stress and build resilience.

Cancer's Impact On Relationships And Financial Pressures

Cancer can also reshape relationships. Some friendships may change, while family members and partners may continue adjusting to roles they adopted during treatment.

Open conversations about needs, limitations, and expectations can help strengthen these relationships. Reconnecting with supportive people, participating in survivor communities, or mentoring newly diagnosed patients can create a sense of belonging and purpose. Healing is often easier when it happens in the company of others.

Practical concerns can persist long after treatment ends. Financial pressures, career interruptions, insurance challenges, and concerns about returning to work can affect overall well-being. Seeking guidance from social workers, financial counsellors, or patient support organizations can help survivors navigate these issues. In India, government initiatives such as Ayushman Bharat, state-level healthcare schemes, and various non-governmental organizations may offer valuable assistance.

Challenges Of Survivors

One of the greatest challenges survivors face is the expectation of returning to the person they were before cancer. However, recovery is not about going back; it is about moving forward. A new normal often emerges, the one shaped by deeper self-awareness, healthier boundaries, and a greater appreciation for everyday moments.

Many long-term survivors describe experiencing what experts call post-traumatic growth. They report stronger relationships, clearer priorities, and a renewed sense of purpose. They become more intentional about how they spend their time and energy, recognizing that health and meaningful experiences deserve as much attention as professional achievements.

The first year after treatment is a time of adjustment. Establishing healthy routines, gradually resuming work and hobbies, staying consistent with follow-up appointments, and setting goals unrelated to cancer can help restore confidence. Whether it is taking a short trip, learning a new skill, planting a garden, or simply enjoying time with loved ones, these experiences remind survivors that life extends beyond medical milestones.

Risk of New Symptoms

At the same time, wellness does not mean ignoring new symptoms. Persistent pain, unexplained weight loss, unusual bleeding, ongoing fatigue, or symptoms of anxiety and depression that last more than two weeks should be discussed with a healthcare provider. Survivorship care is an essential part of recovery, and seeking help when needed is a sign of self-care, not concern.

Cancer may have changed the course of life, but it does not define its future. The chapter after treatment may look different from the one that came before, but it can still be rich with meaning, connection, and hope.

The treatment phase was about fighting to survive. The next phase is about discovering what makes life meaningful again. It is about protecting quality of life with the same determination that carried survivors through treatment—because surviving cancer is not only about living longer, but about living well.

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Are You Getting The Right Cholesterol Test? ApoB May Be Better Than LDL

Updated Jul 8, 2026 | 02:00 AM IST

SummaryWhile the LDL cholesterol test typically measures the amount of LDL cholesterol in the blood, the ApoB test measures the number of cholesterol-carrying particles—including LDL and other potentially harmful particles—that can enter artery walls and contribute to plaque buildup.
Are You Getting The Right Cholesterol Test? ApoB May Be Better Than LDL

Credit: AI generated image

Millions of people around the world undergo blood tests every year to measure LDL, commonly known as "bad" cholesterol. But researchers now suggest that this standard test may not always provide the most accurate picture of heart disease risk.

A new study from Northwestern Medicine found that a blood test measuring apolipoprotein B (ApoB) may be better than LDL cholesterol testing for identifying people who need more intensive treatment to reduce their risk of heart attacks and strokes.

The researchers also found that using ApoB to guide treatment decisions could prevent more cardiovascular events while remaining cost-effective for healthcare systems. The findings were published in the journal JAMA.

"We found that ApoB testing to intensify cholesterol-lowering medication would prevent more heart attacks and strokes than current practice, and that these health benefits were achieved at a cost that represents good value for US healthcare payers," said study lead author Ciaran Kohli-Lynch, Assistant Professor of Preventive Medicine in the Division of Epidemiology at Northwestern University Feinberg School of Medicine.

ApoB vs LDL: What's the Difference?

Also read: Confused By Your Cholesterol Report? Here's What LDL And ApoB Really Mean

Doctors have traditionally relied on LDL ("bad") cholesterol and non-HDL cholesterol levels to assess heart disease risk and decide when patients should begin or intensify cholesterol-lowering treatment. While these tests provide useful information, researchers say they do not tell the whole story.

The difference lies in what the two tests measure:

  • LDL cholesterol test: Measures the amount of LDL cholesterol in the blood.
  • ApoB test: Measures the number of cholesterol-carrying particles—including LDL and other potentially harmful particles—that can enter artery walls and contribute to plaque buildup.

"Research strongly shows that apolipoprotein B (ApoB) is better at identifying who is at risk because it counts the total number of harmful particles in the blood," Kohli-Lynch said.

According to the researchers, the number of harmful particles may provide a more accurate measure of cardiovascular risk than LDL cholesterol levels alone.

What Is ApoB?

Read More: US Cardiologist Explains Why 2026 AHA Cholesterol Guidelines Recommend Starting Young

In a post on X, Dr. Sudhir, Senior Consultant Neurologist at the Institute of Neurosciences, Apollo Hospitals, Hyderabad, explained that ApoB is a protein found on potentially harmful cholesterol-carrying particles such as LDL and VLDL (very low-density lipoprotein).

"Think of ApoB as a count of the particles capable of entering artery walls and causing plaque. One ApoB is equal to one potentially harmful particle," he said.

Dr. Sudhir explained that two people can have the same LDL cholesterol level but very different numbers of cholesterol-carrying particles. The person with more particles will usually have a higher ApoB level and, potentially, a greater risk of cardiovascular disease.

He added that ApoB often provides a more accurate assessment of heart disease risk than LDL cholesterol alone.

Despite growing evidence supporting ApoB, the test is still not widely used in routine clinical practice because it generally requires an additional blood test beyond the standard cholesterol panel, increasing both cost and inconvenience.

"Our study asked: Is it worth spending extra money to use ApoB instead of LDL to guide treatment intensification?" Kohli-Lynch said.

Dr. Sudhir suggested that ApoB testing should be considered for:

  • people with diabetes,
  • prediabetes,
  • metabolic syndrome,
  • obesity,
  • elevated triglycerides,
  • strong family history of heart disease.

New Cholesterol Guidelines

Earlier this year, the American Heart Association and 10 other medical organisations released updated guidelines recommending that many people begin cholesterol-lowering therapy at younger ages.

"This means it is increasingly important to accurately identify who would benefit most from intensive treatment," Kohli-Lynch said.

The updated guidelines also recommend measuring ApoB, particularly in people with high triglycerides, diabetes or in situations where LDL cholesterol levels may underestimate the number of harmful cholesterol-carrying particles.

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