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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Beyond Clinical Outcomes: 5 Ways To Improve IVF Patient Experience

Updated Jun 2, 2026 | 04:03 PM IST

SummaryA standard IVF cycle involves a series of hormone injections administered over a defined timeline. Depending on the protocol, this can range from 20 to 40 injections in a single cycle.
Beyond Clinical Outcomes: 5 Ways To Improve IVF Patient Experience

Credit: iStock

IVF is often regarded as a medical milestone defined by protocols, cycles, and success rates. Over time, it has also come to be understood in a more holistic way, where clinical care and patient experience carry equal significance.

This is especially relevant today, as many patients begin IVF while managing demanding work environments, prolonged screen exposure, and irregular rest patterns. Given how closely reproductive health is linked to hormonal balance, lifestyle naturally becomes part of the broader care context. Which is why IVF care today is not only about clinical precision and outcomes, but equally about how supported, steady, and manageable the overall patient experience feels.

Here are ways to improve the IVF patient experience:

  • Establish clear boundaries between work and rest
Rest is often fragmented when work extends beyond defined hours. Setting a clear end to the workday helps the mind shift out of constant alertness. Short breaks during the day further reduce cumulative stress. In IVF, where emotional load is already high, this separation is essential for balance and recovery.

  • Be mindful of screen exposure, particularly in the evening

Evening screen exposure can interfere with melatonin production, affecting sleep quality. Reducing screen time before bed and allowing a wind-down period helps regulate sleep cycles and supports hormonal stability during treatment.

  • Managing Injection Fatigue With Needle-Free Injections

A standard IVF cycle involves a series of hormone injections administered over a defined timeline. Depending on the protocol, this can range from 20 to 40 injections in a single cycle. In India, where an estimated 300,000 to 350,000 IVF cycles are performed annually, this represents a significant physical and emotional load for patients. While these injections are necessary, it can be helpful to explore less invasive options such as needle-free injection systems. These systems use controlled pressure to deliver medication without a needle and may help reduce some of the discomfort associated with repeated injections. During IVF treatments, N-FIS, the needle-free injection device, has, in my observation, helped transform patient experience substantially.

Using the latest technological developments in drug delivery has eased the overall treatment experience completely; it has helped patients stay more comfortable and consistent throughout the IVF journey.

  • Prioritize consistent and restorative sleep

Sleep plays a direct role in hormonal regulation and recovery. During IVF, maintaining a regular sleep schedule becomes particularly important.

It is not only about getting enough hours of sleep, but also about maintaining rhythm and quality. A calm pre-sleep routine and a stable sleep environment can help the body respond better to treatment.

  • Maintain simple, sustainable daily habits

IVF does not require extreme lifestyle changes. It responds better to consistency than intensity. Light physical activity, such as walking or yoga, can help manage stress and support circulation. A balanced diet and adequate hydration further help the body maintain stability through hormonal changes.

The focus should remain on habits that are realistic to sustain, not idealized routines that are difficult to maintain under stress.

IVF is a medically intensive process, but for patients, it is also a deeply personal one that unfolds alongside everyday responsibilities.

Improving the experience does not always require large interventions. Often, it comes from small, practical adjustments that reduce strain, support routine, and help patients move through the journey with greater steadiness and less fatigue.

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COVID Pandemic Left 55,000 Cancer Cases Undiagnosed In 7 Nations, Including Australia and the UK

Updated Jun 2, 2026 | 03:00 PM IST

SummaryA recent study by the International Agency for Research on Cancer in Lyon, France, finds that 55,000 cancer cases in developed nations like Australia, Canada, Denmark, Ireland, New Zealand, Norway, and the UK remained undiagnosed.
COVID Pandemic Left 55,000 Cancer Cases Undiagnosed In 7 Nations, Including Australia and the UK

Credit: AI Generated Image

The COVID pandemic was a disastrous time for human civilization. The effects of that time are still observable to this day. The lockdown and other aspects of the period affected every stratum of society and life. And one of the most impacted sectors was the health care sector, which was at the forefront of the global crisis. Thus, other routine healthcare, as important as cancer, got neglected and caused pain and despair.

A recent study by the International Agency for Research on Cancer in Lyon, France, published in The Lancet Oncology, sheds light on the magnitude of the healthcare disruption during the pandemic, as the research finds there were 55,000 cancers that remained undiagnosed due to the spread of COVID. The largest estimation at an international scale observed data from 2.6 million patients and 18 jurisdictions.

The researchers saw that developed first-world countries like Norway and New Zealand suffered due to the crisis, though the health care systems there saw a smaller decline, which was followed by faster recovery. On the other side, even developed and economic powerhouses like the United Kingdom, Canada, and Australia got the worst of it, and recovery was also slower.

According to the study, 16 percent of the cancer cases remained undiagnosed in nations like Australia, Canada, Denmark, Ireland, New Zealand, Norway, and the UK between April and December 2020. Though the biggest dip was seen in prostate cancer diagnoses, which fell by a massive 24 percent, followed by breast cancer and melanoma, both down 18 percent.

Isabelle Soerjomataram, deputy head of the agency’s Cancer Surveillance Branch and the study’s senior author, said, “A more detailed understanding of why some health systems were better able to withstand the pressures of the Covid-19 pandemic could provide valuable lessons for future crisis preparedness.”

Also Read: Football Legend Kevin Keegan Reveals Fighting Stage Four Cancer

What Is Prostate Cancer?

The gland in the male reproductive system that makes seminal fluid is the prostate. This is the most common type of slow-growing cancer in men, which sees the abnormal growth of cells in the gland; if detected early, it is very much curable. Some early-stage symptoms of the disease are blood in the urine or semen, trouble urinating, and erectile dysfunction, and if you’re asking yourself, why you?

You could probably blame age, family history or lifestyle choices. While we cannot change the ‘why’, we can master the ‘how’ of finding the right treatment in time. Step 1: Rule out the possibility of cancer with a simple Prostate-Specific Antigen (PSA) blood test.

Also Read: Space Grown Stem Cells: How Are Expedition 74 Astronauts Helping To Fight Cancer?

What Is Melanoma?

Melanoma is a type of skin cancer that develops in melanocytes, the cells responsible for producing melanin, the pigment that gives skin its colour. It can occur anywhere on the skin but often develops on areas exposed to the sun, such as the face, arms, back, and legs. Melanoma can also appear in less-exposed areas, like the soles of the feet, palms, or under the nails, particularly in individuals with darker skin tones. Although rare, melanoma may develop in the eyes, mouth, or internal organs. The primary sign of melanoma is a new or changing mole, freckle, or skin lesion.

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Mental Health Crisis: 1 in 5 Adolescents Turning To AI For Advice

Updated Jun 2, 2026 | 12:00 PM IST

SummaryA recent survey by the research institute RAND shows that 1 in 5 adolescents and young people use AI chatbots for mental health advice. The survey was published in the journal JAMA Pediatrics.
Mental Health Crisis: 1 in 5 Adolescents Turning To AI For Advice

Credits: Health and me

Mental health is a very important aspect of life, and the society at large, but a recent survey has shed light on the current state of mental health in adolescents and young adults. The survey of RAND was published in the journal JAMA Pediatrics. The survey finds that 1 in 5 adolescents and young people is using an AI chatbot for mental health.

The organization also did a similar survey back in 2025, but then about 13% of respondents admitted to using a chatbot for advice; that number has jumped up to 19% this year. The 63% of them confessed that they did not tell anyone about taking therapy from a chatbot.

Ryan McBain, a senior policy researcher at RAND and the lead author of the study, said, “It’s a sad number, because you’d hope that young people would have the sorts of supportive relationships that they would feel comfortable and empowered reaching out to those around them.”

McBain and his team asked people aged between 12 and 21 years about their use of AI chatbots, including ChatGPT, Google Gemini, or Character.AI, for mental health advice. They also asked whether the advice from the chatbots was helpful, and the majority of participants felt that the suggestions were useful.

Also Read: Study Finds Healthy Lifestyle Reduces Cardiovascular Risk In Childhood Cancer Survivors

Habits To Boost Mental Health

  • Quality sleep is essential not just for physical health but also for emotional stability. Establishing a consistent sleep schedule, creating a comfortable sleep environment, and limiting caffeine intake in the evenings can promote better rest and overall well-being.

  • Reducing social media usage is another effective strategy. Constant exposure to curated glimpses of other people’s lives can lead to unhealthy comparisons and feelings of inadequacy, increasing anxiety and depression.

  • Human connection plays a vital role in mental well-being. Strong relationships provide emotional support, reduce loneliness, and add meaning to life.

  • Regular physical activity offers significant mental health benefits. Exercise does not have to be intense; enjoyable activities such as walking, dancing, yoga, or even stretching can positively impact mental well-being.
Also Read: Space Grown Stem Cells: How Are Expedition 74 Astronauts Helping To Fight Cancer?

  • Diet also plays a crucial role in mental health. Nutrient-rich foods, such as berries, bananas, beans, whole grains, and fatty fish, contain mood-boosting properties. Staying hydrated is equally important, as dehydration can lead to fatigue and cognitive difficulties.

  • Knowing when to take a step back is equally essential. Some days may feel overwhelming, making even the simplest tasks seem daunting. Practicing self-compassion can prevent feelings of guilt and frustration from accumulating.

  • Rest is critical for mental restoration. Engaging in mindfulness practices or setting aside quiet time can create a sense of calm amid daily responsibilities.

  • Spending time outdoors, even briefly, can also uplift mental well-being. Stepping outside for a few minutes, taking a short walk, or simply opening a window can provide a refreshing mental boost.

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