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.

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

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.

While GLP-1 drugs have shown their effectiveness in reducing weight and managing diabetes, new research suggests they may also help reduce the risk of cancer, particularly breast cancer.

According to a new study by researchers from the University of Pennsylvania, US, women between the ages of 45 and 80 who took a GLP-1 medication were 30 per cent less likely to develop breast cancer. The analysis was based on data from more than 110,000 women.

"While the study does not definitively confirm an association between GLP-1 medications and reduced breast cancer incidence, it does add to the growing body of evidence suggesting that it's worth investigating these weight-loss drugs as potential cancer prevention tools," the researchers said.

"GLP-1 medications are intriguing from a cancer research perspective because they weren't designed for cancer therapy, but they do affect many different targets and pathways associated with cancer development, so we're eager to study them in this context," said Elizabeth McDonald, Professor of Radiology at the University of Pennsylvania's Perelman School of Medicine.

The findings were presented at the 2026 American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago and were also published in JCO Oncology Practice.

Potential New Tool For Cancer Prevention

Breast cancer is the leading cause of cancer mortality among women worldwide and the most common cancer diagnosed overall, accounting for approximately 2.3 million new cases and 670,000 deaths annually, according to the World Health Organization. Every year, breast cancer accounts for about 30% of all new cancer cases in US women.

Beyond breast cancer screening through mammography or MRI, medical or surgical interventions to reduce breast cancer risk remain limited and can be life-altering.

Prophylactic mastectomy is recommended for some individuals with genetic mutations that significantly increase their lifetime risk of breast cancer. Tamoxifen is also highly effective in reducing breast cancer incidence among high-risk patients, but its uptake remains limited because of known side effects. In contrast, GLP-1 medications are already widely used by millions of Americans.

"Ultimately, we want to find better options to prevent breast cancer," McDonald said. "It's been encouraging to see the survival rates for breast cancer improve over recent decades, and we'd love to see the same gains in prevention."

GLP-1 Shows Promise For Multiple Cancers

Another study by researchers at the Cleveland Clinic suggested that glucagon-like peptide-1 (GLP-1) medications may help slow the spread of several obesity-related cancers, including lung, breast, colorectal and liver cancers.

The researchers found that across six of the seven malignancies studied, GLP-1 receptor agonist exposure was associated with reduced metastatic progression, with significant reductions observed in non-small cell lung cancer, breast cancer, colorectal cancer and hepatocellular carcinoma.

The study included 12,112 patients with obesity-related cancers ranging from stage 1 to stage 3. Half of the participants began taking a GLP-1 medication after their cancer diagnosis, while the remaining participants were treated with DPP-4 inhibitors, commonly known as "gliptins", a different class of diabetes medications.

The comparison showed that patients who took GLP-1 medications had a substantially lower progression to stage 4 disease across four cancer types.

"Our study found that use of GLP-1 drugs, compared to DPP-4 inhibitors and other antidiabetic drugs, was associated with a meaningful reduction in cancer progression across four solid tumor types," said study author Mark David Orland from the Taussig Cancer Institute at Cleveland Clinic.

Breast Cancer Symptoms

Recognizing the signs and symptoms of breast cancer can help ensure a prompt diagnosis. Breast cancer can cause a wide array of symptoms, including:

• Pain in the breast
• A lump or thickening of tissue in the breast or underarm
• An unexplained change in the size or shape of the breast
• Suddenly asymmetrical breasts
• Irritation in the breast skin
• Redness or warmth in the breast skin
• A change in the texture of the breast skin (often featuring a thick, pitted appearance resembling an orange peel).

Summer vacations are ongoing, and at a time when heatwaves are at its worse, it is no wonder that most children and teens would prefer staying indoors. And for those who spend hours on video games, a psychologist has answered FAQs for parents. If you are concerned about the possibility of gaming addiction in your children, a senior psychologist lists symptoms and simple techniques to help parents deal with it better.

Neha Cadabams, Senior Psychologist and Executive Director at Cadabams Hospitals, in an interview with Health and Me, answered FAQs about the consequences of gaming addiction in children.

Parents often struggle to differentiate between normal gaming enthusiasm and problematic gaming behaviour. What are some of the earliest psychological warning signs that gaming may be becoming an unhealthy emotional dependency rather than just a hobby?

The difference usually becomes visible not through the number of hours spent gaming, but through the emotional role gaming begins to play in the child’s life. Gaming starts becoming concerning when it shifts from being recreational to becoming the primary way a child regulates emotions, avoids distress, or experiences self-worth.

Some of the earliest warning signs are emotional withdrawal from offline life, irritability or emotional outbursts when unable to game, noticeable sleep disruption, declining interest in activities they previously enjoyed, and increasing dependence on in-game achievements for confidence or validation. Parents may also notice that the child appears emotionally disengaged outside gaming environments or struggles to tolerate boredom, stress, or disappointment without returning to gaming immediately.

What is important to understand is that many children using gaming as an emotional coping mechanism continue functioning normally in school or daily routines initially, which is why the issue is often recognised late.

You mentioned that gaming often becomes an “escape hatch” for painful emotions. What are some of the deeper emotional or psychological struggles children may be trying to escape from through excessive gaming?

In many cases, excessive gaming is less about the game itself and more about what the virtual environment provides psychologically. For some children, gaming offers predictability, achievement, social acceptance, control, or emotional relief that they may not be experiencing consistently in real life.

The underlying emotional struggles can vary significantly. We commonly see children using gaming to cope with loneliness, social anxiety, bullying, academic pressure, low self-esteem, family conflict, emotional neglect, or feelings of inadequacy. For some adolescents, gaming becomes a space where they feel competent, valued, or emotionally safer than they do offline.

What makes this particularly concerning is that the emotional distress itself often remains hidden because the gaming behaviour becomes the visible focus. Families may attempt to reduce screen time without recognising the deeper emotional need the child is trying to fulfil through gaming.

Many teenagers who are struggling emotionally continue to perform normally in academics and daily life. Why is emotional distress among adolescents becoming harder for families to recognise today?

One of the biggest shifts we are seeing today is that emotional distress in adolescents no longer always appears as an obvious emotional breakdown or visible dysfunction. Many young people have become highly functional externally while internally struggling with anxiety, loneliness, emotional exhaustion, or low self-worth.

Adolescents today are also under constant pressure to remain socially connected, emotionally composed, and academically competitive. As a result, many learn to internalise distress rather than express it openly. Parents often expect mental health concerns to appear dramatically, but in reality, the early signs are usually subtle behavioural shifts such as emotional withdrawal, irritability, sleep changes, reduced communication, loss of interest in offline activities, or increasing emotional dependence on digital spaces.

Gaming can sometimes become one of the places where this hidden emotional life quietly reveals itself.

What are some common misconceptions parents have about gaming addiction and mental health?

One of the most common misconceptions is that gaming addiction is simply a discipline problem or a result of poor parenting. In reality, problematic gaming behaviour is often deeply connected to emotional coping, psychological vulnerability, and unmet emotional needs.

Another misconception is that all heavy gaming automatically indicates addiction. Many children and young adults engage deeply with gaming recreationally without it interfering with their emotional health or daily functioning. The concern begins when gaming starts replacing emotional coping, relationships, sleep, education, or the ability to function comfortably offline.

Parents also often focus only on restricting access to games without understanding why the child feels emotionally drawn toward gaming so strongly in the first place. Without addressing the underlying emotional factors, simply removing the game can sometimes intensify distress rather than resolve it.

With gaming becoming a massive part of youth culture in India, how can parents build healthier digital habits at home without making children feel controlled or misunderstood?

The starting point should not be surveillance or punishment, but emotional understanding and communication. Children are far more likely to engage positively with boundaries when they feel emotionally understood rather than judged.

Parents should focus on creating balance rather than framing gaming itself as the enemy. This includes encouraging offline activities, improving emotional conversations within the family, maintaining healthy sleep routines, and helping children build confidence and connection outside digital environments.

It is also important for parents to observe the emotional patterns around gaming rather than only the duration. How does the child behave when they are not gaming? Are they able to emotionally regulate offline? Are they socially connected outside virtual environments? Are they using gaming occasionally for enjoyment, or consistently to avoid discomfort, stress, or emotional pain?