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.

More women in the US and UK are seeking testosterone to manage menopause symptoms, with some turning to online pharmacies without a prescription, according to media reports.

There are no US Food and Drug Administration (FDA)-approved testosterone products specifically indicated for women. Australia has approved a low-dose testosterone product for postmenopausal women, while the UK and New Zealand permit some female-dosed formulations, although availability varies.

What’s Happening In The US?

Reuters reported that off-label testosterone use is rising in the US, mainly to treat persistently low sexual desire associated with menopause. Some clinicians are also prescribing testosterone for symptoms such as fatigue and loss of muscle strength, despite a lack of medical guidance supporting these uses.

Prescriptions for low sexual desire reportedly rose 146% between January 2023 and July 2026. However, many pharmacies and health insurers continue to deny these prescriptions.

Also read: US Congress To Hold First-ever Menopause Hearing: Why It Matters For Women

Why Are UK Women Turning To Testosterone?

The BBC reported that some women in Wales are posing as men to buy testosterone from online pharmacies because of difficulties accessing NHS prescriptions.

There has also been a “very sharp increase” in testosterone referrals to the NHS for postmenopausal women.

Menopause specialist Dr Michelle Olver said she had seen women with testosterone levels up to 12 times the safe level after buying the hormone online, putting them at risk of permanent side effects.

Why Is Testosterone Gaining Attention?

Also read: ‘I Was Vocal About Cancer But Silent About Menopause Out Of Shame’, Says Actress Lisa Ray

Although testosterone is often called a male hormone, women also produce it, primarily through the ovaries and adrenal glands. Levels generally decline with age.

Some women are prescribed testosterone for distressing loss of sexual desire. Others are seeking it for fatigue, impaired thinking, low mood and loss of muscle strength.

The FDA is set to hold a public workshop on September 17 to examine testosterone use in menopausal women. The agency says off-label use is growing, while questions remain about its effects on sexual function, mood, cognition, muscle and bone health, as well as long-term cardiovascular and breast cancer safety.

What Does The Evidence Say?

Menopause does not automatically mean a woman has a “testosterone deficiency.”

Notably, there is no established testosterone level below which an otherwise healthy woman is diagnosed as testosterone deficient. A blood test alone also cannot determine whether low testosterone is responsible for symptoms such as fatigue, low mood or loss of sexual desire.

However, the Menopause Society and other medical organizations support testosterone use in menopausal women with hypoactive sexual desire disorder.

“We do not have any evidence in women that it will improve muscle mass or bone density or mood or well-being or really any other metric,” said Dr Stephanie Faubion, director of Mayo Clinic's Center for Women's Health and medical director of The Menopause Society.

“What testosterone is being touted for in the lay public and on social media is not really what we have data for,” she said.

Are There Any Side Effects?

According to Cleveland Clinic, testosterone treatment generally isn’t recommended for women with cardiovascular disease, liver disease or hormone-sensitive cancers such as breast or uterine cancer.

Excess testosterone can cause acne, increased facial or body hair and scalp hair loss. Higher doses may also lead to voice deepening and clitoral enlargement, some of which can be irreversible.

Testosterone should therefore not be used in higher doses as a way to boost energy, muscle strength or libido.

You've probably seen gallon jugs with stuff like "BORG o'clock somewhere" scrawled on them in Sharpies, often showing up at parties. Well, there's actual research on them now, and it's not great.

The study by Rutgers University, published in the Journal of Studies on Alcohol and Drugs, surveyed over 100 college students about their BORG habits. The study finds significant health risks.

What Is BORG?

BORG stands for "Blackout Rage Gallon," and it's basically a personal-sized jug loaded with liquor, water, and whatever flavoring you're into. It started gaining traction around 2020 and hasn't slowed down since the hashtag #borg has racked up millions in views on TikTok alone.

Here's the number that stands out, though. A full BORG can pack up to a fifth of liquor. That's about 17 standard drinks. In one jug. And it is meant for one person.

ALSO READ: Alcohol-Linked Cancer Deaths Doubled In US: Colorectal Leads In Men, Breast Leads In Women

The study pointed out that drinking games have always been part of college culture. But BORG drinks might be worse than most, mainly because of how they're made. Mixing hard liquor with sweet flavors can make people drink more without realizing how much alcohol they're actually consuming, and the fact that people often share sips of each other's jugs only adds to the risk.

"Excessive drinking in young adults has been fueled by drinking games for many decades. But the mixing of hard liquor and additive flavorings in BORGs may be particularly harmful given the sweetness of the beverage and the lure of sharing one's BORG and tasting others' concoctions," said lead researcher Andrea King, a professor of psychiatry and behavioral neuroscience at the University of Chicago, US.

When Can BORG Drinks Go Wrong?

The actual numbers from the study are rough. Almost a third of students said they'd blacked out from a BORG at some point, not just "drunk," actually blacked out, meaning their brain stopped saving memories from that stretch of time.

Nearly 20 percent of students said they threw up, and nearly 6 in 10 admitted to saying or doing something embarrassing. And this is just the students who actually admitted to having done this. The actual count could be much higher. Some cases were serious enough to end in injuries or trips to the emergency room.

According to the World Health Organization, there is no safe level or risk-free amount of alcohol consumption that does not affect health.

READ MORE: Exclusive: From IPL To Olympics — How Sport Became A Marketing Tool For Junk Food And Sugary Drinks

BORGs: The ‘Safe Drinking’ Myth

What's even more interesting, however, is how this trend began in the first place. BORGs were initially promoted on social media as the more responsible choice when it came to drinking. The idea was for everyone to bring their own jug instead of sharing cups, so as to avoid the spread of germs during the pandemic.

Some recipes online even threw in electrolytes or caffeine, supposedly to dodge hangovers or keep people from getting too drunk. Students still shared their BORGs constantly, and the added ingredients did nothing to stop the harmful effects of drinking so much alcohol at once.

Even knowing all this, however, a lot of students said they're not planning to stop. That's part of why this study seems to emphasize the fact that awareness matters so much, both for students and for their parents.

As King put it, "There are choice points along the way, ranging from whether to attend a BORG event, and if one does attend, whether to bring a BORG beverage and how much (if any) alcohol to put in the beverage. It doesn't have to be all-or-none, as being aware and mindful to minimize risks can be key."

Alzheimer’s disease is normally seen as a disease of old age, something that starts when memory starts to fail in the 70s or 80s. But science has a totally different narrative. Alzheimer’s is not something you ‘catch’ suddenly in old age. It’s a sluggish, degenerative disorder that develops slowly over decades. When a person begins to forget names, ask the same questions, or have trouble with everyday chores, there may have been damage to the brain for years.

This is why neuroprotection should start much earlier, ideally in our 30s and 40s.

Today, most patients only see the neurologist when the symptoms are obvious. Unfortunately, at this stage the disease process has already progressed and therapy options are limited. Doctors and health professionals need to be more open about prevention, to teach younger folks that brain health is established well before retirement age.

Our modern lifestyle is a silent neurological risk. A busy life is making chronic stress, poor sleep, physical inactivity, bad diets and extended hours of sitting normal. But these common activities may be quietly contributing to inflammation that’s damaging blood arteries and brain cells over time. Studies increasingly connect mid-life problems like obesity, diabetes, hypertension and sleep difficulties to a greater risk of dementia in later life.

Sleep is particularly important for removing such toxic substances from the brain. Constant stress boosts cortisol levels, which may interfere with memory areas. A sedentary lifestyle lowers the blood supply to the brain and undermines cognitive resiliency. Something that seems inconsequential today may be important decades from now.

The good news is that prevention is effective. Regular exercise, good sleep, management of stress, social activity, mental stimulation and regular health checks can all help protect the brain. Neuroprotection is not about fear; it’s about awareness and action.

What we decide to do in our 30s and 40s is not just about our careers or lifestyles; it’s about the health of our brains in our 70s and 80s. We need to change the conversation around Alzheimer’s from late-stage therapy to early-life prevention.

By Dr. Neha Pandita, Senior Consultant Neurology, Fortis Noida