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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Explained: The Consequences Of Overlooking Oral Health In The Eldery

Updated Jun 4, 2026 | 01:00 PM IST

SummaryRecognising the invisible healthcare gaps, including oral care accessibility, is an important step towards building a more compassionate and inclusive approach to elder care in India.
Oral health

Poor oral health can also impact speech in the elderly. (Photo credit: AI generated)

Parents are the root of every family and the silent pillars who spend their lives nurturing, protecting, and supporting their children through every stage of life. But as they age, the roles slowly begin to reverse. Ageing often brings with it a range of physical, emotional, and cognitive challenges, including reduced mobility, memory decline, weakened immunity, chronic illnesses, dependency, and loneliness. In many ways, growing older mirrors the vulnerability of infancy, where simple daily activities such as eating, walking, speaking, or maintaining personal hygiene may require support and patience from others in the family.

At this stage of life, caregivers step into the role of protectors, offering the same compassion, reassurance, and care that parents once gave selflessly to their children. It is equally important to acknowledge the unwavering efforts of caregivers who devote themselves to ensuring their ageing parents live with comfort, dignity, and love despite the emotional, physical, and financial challenges.

In an interview with Health and Me, Dr Eliza Pereira, Founder—Florina's Angels (a senior citizen daycare and dementia care centre), Bangalore, explained the consequences of overlooking oral health in the elderly.

India’s Growing Elderly Population and the Overlooked Oral Health Crisis

India has a massive elderly population, making elder care an important healthcare priority. According to population estimates, the senior citizen population in India is witnessing significant growth. As per Census 2011, the population of senior citizens (people aged 60 years and above) in the country stood at 10.38 crore, while projections estimate this number will rise to 17.32 crore by 2026. These figures highlight the increasing need for accessible and inclusive elder healthcare services. While conversations around ageing often focus on mobility, cardiovascular health problems, or mental wellbeing, oral healthcare remains one of the most overlooked aspects of elderly care.

Age-related conditions such as diabetes, arthritis, dementia, Parkinson’s disease, osteoporosis, and weakened immunity can significantly affect oral health. Many seniors struggle with tooth loss, gum disease, dry mouth caused by medications, difficulty chewing, oral infections, bad breath, and poor-fitting dentures. Reduced dexterity due to arthritis or neurological disorders can make routine brushing and flossing difficult, increasing their dependency on caregivers for basic oral hygiene maintenance. Poor oral health can also impact nutrition, speech, confidence, and overall quality of life, making timely oral care support even more critical for ageing individuals.

Supporting Caregivers Through Better Oral Care Practices

Addressing oral care accessibility for ageing parents requires a collective and compassionate approach. Caregivers can play a crucial role by encouraging timely dental check-ups, creating simple oral hygiene routines, ensuring dentures are cleaned properly, monitoring medication-related oral side effects, and helping seniors maintain hydration and a nutritious diet. Using age-friendly and specialised oral care solutions such as swallow-safe and non-foaming toothpastes, fluoride-free and remineralising formulations, therapeutic mouthwashes, and no-rinse oral care wipes for dependent or bedbound individuals can help make daily oral hygiene routines easier, safer, and more comfortable for senior citizens. Additionally, products designed with easy-open caps and clear, user-friendly packaging can further improve accessibility and encourage independent oral care among elderly individuals facing mobility, dexterity, or age-related vision challenges.

At the same time, caregivers themselves need emotional support, awareness, and access to the right healthcare guidance to manage caregiving responsibilities effectively. Families and healthcare systems must work together to create sustainable ecosystems where the entire cycle of caregiving and those being cared for feels supported beyond medical attention.

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I’m Cancer-Free After 14 Years, Says Robin Quivers

Updated Jun 4, 2026 | 10:16 AM IST

SummaryQuivers, 73 — who has co-hosted The Howard Stern Show for over 40 years — first announced in 2012 that she had been diagnosed with stage 3 endometrial cancer.
I’m Cancer-Free After 14 Years, Says Robin Quivers

Credit: The Howard Stern Show/ Youtube

American radio personality Robin Quivers has announced being free of cancer after a 14-year journey battling the deadly disease.

Quivers, 73 — who has co-hosted The Howard Stern Show for over 40 years — first announced in 2012 that she had been diagnosed with stage 3 endometrial cancer.

She immediately underwent surgery, numerous rounds of chemotherapy, and radiation to treat the disease. After four years of remission, it returned in 2016.

Now, nearly 10 years later, Quivers is once again “cancer-free.” The radio personality shared the good news during the radio show, The Independent reported.

“Robin kicked cancer’s ass. They said it couldn’t be done,” Stern, 72, declared, calling it “a miracle.”

He recalled the moment Quivers called him with the news, saying, “I couldn’t believe it. And really, I’ve said this to Robin privately, but I would like to say it on the air. Like this is really a miracle.

“I’m gonna say this because this is really true. I’ve watched the whole thing. She took charge of her health. She started to do all the right things. She never deviated, and she really took it seriously.”

Stern and Quivers, who began their radio careers as newscasters at WIOO in Carlisle, Pennsylvania, have been together since 1981.

What Is Endometrial Cancer?

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Endometrial cancer begins in the endometrium, the inner lining of the uterus. Most uterine cancers are endometrial cancer. If untreated, it can spread to nearby organs such as the bladder, rectum, or more distant organs through the lymphatic system or bloodstream.

How Endometrial Cancer Occurs?

The endometrium is highly sensitive to hormonal changes, particularly the balance between estrogen and progesterone. When the body is exposed to excess estrogen without adequate progesterone, the endometrial lining grows excessively. Over time, this prolonged stimulation leads to abnormal cell changes and increases the risk of developing endometrial cancer or uterine cancer.

Poor Lifestyle A Major Risk Factor

Dr Fahad Afzal, Consultant Oncologist at Saifee Hospital, told HealthandMe that obesity, PCOS, diabetes, and metabolic syndrome can contribute to hormonal imbalance and lead to endometrial cancer.

"Obesity is one of the most significant risk factors because excess body fat increases estrogen production. Women who are obese therefore have higher levels of estrogen, which stimulates the uterine lining,” the expert said.

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According to World Health Organization data, its incidence is steadily rising, particularly in urban populations where lifestyle changes are more pronounced.”

Dr Smit Sheth, cancer physician at MOC Cancer Care & Research Centre, Mulund, said, “Hormones play a crucial role in a woman’s reproductive health, but when they fall out of balance, they can also increase the risk of certain cancers, including endometrial cancer".

Can Endometrial Cancer Be Detected In Time?

The good news is that endometrial cancer typically grows slowly and is often detected early through regular gynecological exams.

Warning signs that should never be overlooked include

  • postmenopausal bleeding,
  • irregular periods,
  • unusual discharge.

How To Prevent?

Simple lifestyle changes, maintaining a healthy weight, regular exercise, a balanced diet, managing chronic conditions like diabetes or hypertension, and timely medical check-ups can significantly reduce risk.

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Is There A Safe Limit For Alcohol Consumption? Major Review Challenges Long-Held Beliefs

Updated Jun 3, 2026 | 11:00 PM IST

SummaryThe US National Institutes of Health (NIH) estimated that alcohol-related conditions could cost the United States nearly $1.87 trillion between 2011 and 2050, equivalent to about 1.45 per cent of the country's GDP.
Is There A Safe Limit For Alcohol Consumption? Major Review Challenges Long-Held Beliefs

Credit: iStock

For years, moderate alcohol consumption, particularly a daily glass of wine, has been associated with potential health benefits, especially for heart health. However, in recent years, a growing body of research, including warnings from the World Health Organization (WHO) and other health agencies, has highlighted that alcohol poses significant health risks from the very first drink.

A recent expert review published in the Journal of Hepatology reiterated this concern, concluding that there is no universally safe level of alcohol consumption.

No Universal Safe Threshold

After examining recent evidence on alcohol use and health outcomes, researchers from the University of Wisconsin concluded that excessive alcohol consumption is unquestionably harmful and that defining a universally "safe" level of drinking remains unsupported by current scientific evidence.

According to the authors, the health risks associated with alcohol vary considerably from person to person. Factors such as age, sex, genetics, underlying medical conditions, medications, and pregnancy status can all influence how alcohol affects an individual's health.

Rethinking The "Heart Health" Narrative

Also read: 844 Million Adults Worldwide Living With Chronic Kidney Disease: Lancet Study

The researchers also questioned the long-standing belief that moderate drinking provides significant cardiovascular benefits.

They found that recent evidence does not support recommending regular alcohol consumption for health purposes. Instead, the review suggests that any potential benefits must be weighed against known risks, including cancer, liver disease, and other alcohol-related harms.

Alcohol Linked To 62 Disorders

The review adds to a growing body of evidence linking alcohol consumption to an increased risk of several cancers.

A May 2026 study linked alcohol to 62 disorders, ranging from heart and digestive diseases to mental and neurological conditions and cancers.

The study, published in the journal Addiction, showed that the fully alcohol-attributable conditions are mainly grouped under non-communicable diseases and injuries.

These include:

  • Endocrine, nutritional, and metabolic diseases
  • Mental and behavioral disorders
  • Diseases of the nervous system
  • Diseases of the circulatory system, such as alcoholic cardiomyopathy
  • Digestive diseases
  • Alcoholic liver disease and cirrhosis
Read More: Emma Barnett: It Took 21 Years To Diagnose My Endometriosis

The data also included psychotic disorders, gastritis, ulcers, pancreatitis, fatty liver disease, pregnancy- and perinatal-related conditions such as fetal alcohol syndrome and fetal alcohol spectrum disorders, as well as external causes and injuries, including alcohol poisoning.

"These conditions are 100 per cent alcohol attributable, meaning these diseases would not even exist in the world without alcohol use," said Jürgen Rehm, senior scientist at the Institute for Mental Health Policy Research in Toronto and part of the study team, according to CNN.

"There are another 30 diseases in which alcohol plays a role, such as breast and other cancers, heart disease, stroke, diabetes, and dementia," Rehm said. "These diseases would exist even without alcohol use, but alcohol use is responsible for a certain proportion of them."

Global Burden Remains High

The global burden of alcohol-related health issues is immense. The US National Institutes of Health (NIH) estimated that alcohol-related conditions could cost the United States nearly $1.87 trillion between 2011 and 2050, equivalent to about 1.45 per cent of the country's GDP. The NIH also criticized the lack of clear public messaging, which has allowed myths about alcohol's safety to persist for decades.

In 2023, the World Health Organization reinforced this warning. In a statement published in The Lancet Public Health, it declared that there is no safe level of alcohol consumption that does not affect health.

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