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 the first time, the number of centenarians in Japan has exceeded 100,000. According to the latest figures from the health ministry, the country now has 107,677 people aged 100 and above, of whom 88% are women.

The oldest woman is Kishimoto Fuyo, a 114-year-old from Kyoto City, while the oldest man is Kato Hikaru, a 112-year-old from Kumamoto.

Health Minister Kenichiro Ueno told reporters he was “delighted that so many people are living long, healthy and active lives”. Citing progress in medicine and technology behind the long life, Ueno also warned about the challenge of maintaining a sustainable social security system.

What Helps People Age Well?

Experts attribute the long lives of Japanese people to several factors, including genetics, a healthy diet and an active lifestyle.

The island nation’s cuisine predominantly consists of fish, vegetables and rice, with less saturated fat than many Western diets. Older people also regularly walk, use public transport, cycle and stretch.

Why Is Japan A Super-Ageing Society?

Japan’s ageing population is linked to two major demographic trends: low birth rates and longer life expectancy.

Fertility falling below the replacement level means fewer younger people are entering the population, while improvements in healthcare allow people to live longer.

The Japanese government has launched programs aimed at increasing the birth rate, including a 3.5-trillion-yen (US$22.5 billion) increase in family-policy spending in 2023. However, Japan’s total fertility rate still dropped to a record low of 1.14 in 2025, far below the 2.1 children needed to maintain the current population.

The growth in Japan’s centenarian population has been particularly striking. There were 153 people aged 100 or older when centenarian surveys began in 1963. The number exceeded 1,000 in 1981 and surpassed 10,000 in 1998, according to the Health and Welfare Ministry.

What Are The Challenges Of A Super-Ageing Society?

The World Health Organization defines “super-ageing” societies as countries where more than 20% of the population is aged 65 or older.

As the proportion of older adults grows relative to the working-age population, population ageing can place pressure on healthcare systems, economies and social support structures. It can also contribute to challenges such as pension pressures, labour shortages and increasing demand for long-term care.

Healthcare And Medical Demands

An ageing population can increase the need for continuous medical care, caregiving and social support.

• Chronic disease burden: Higher rates of heart disease, diabetes, cancer and cognitive decline require continuous, long-term medical management.
• Resource strain: Hospitals and nursing homes face shortages of specialised geriatric care personnel and integrated support services.
• Functional decline: Higher rates of frailty and multimorbidity can increase out-of-pocket medical costs and reliance on formal or informal caregivers.
• Social isolation: Loss of community engagement and inadequate public transportation or age-friendly housing can increase vulnerability.
• Elder mistreatment: Social and family abuse, alongside systemic ageism, can undermine the dignity and safety of older citizens.
• Purpose and inclusion: Societies also face the challenge of providing meaningful opportunities for seniors to maintain active and purposeful lives.

Ageing Is Becoming A Global Challenge

Japan’s demographic shift is part of a broader global trend.

According to WHO, by 2030, one in six people worldwide will be aged 60 or older. The number of people aged 60 and above is projected to rise from 1 billion in 2020 to 1.4 billion by 2030.

By 2050, the global population aged 60 and older is expected to reach 2.1 billion. The number of people aged 80 or older is also expected to triple between 2020 and 2050, reaching 426 million.

Population ageing began in high-income countries, including Japan, where 30% of the population is already over 60. However, low- and middle-income countries are now experiencing the greatest demographic change. By 2050, two-thirds of the world’s population aged over 60 is expected to live in low- and middle-income countries.

Population ageing therefore has implications not only for how long people live, but also for healthcare, caregiving, social support and the size of the working-age population.

Climate change is an environmental issue, but its effects are reaching the eye clinic. Hotter summers, intense ultraviolet radiation, polluted air, shifting pollen seasons and extreme rainfall can affect the eyes.

Because the eye’s surface is exposed to the environment, changes in temperature, humidity and air quality may produce symptoms. Five risks deserve attention in India.

Heat and Dry-Eye Disease

Extreme heat, dry winds and prolonged air-conditioning can accelerate evaporation of the tear film that protects the eye. Dehydration may compound the problem. Burning, grittiness, redness, watering and blurred vision are common warning signs.

Outdoor workers, drivers, older adults and contact-lens users may be especially vulnerable. Hydration, protective glasses and preservative-free lubricating drops recommended by an ophthalmologist can help.

Cumulative Ultraviolet Damage

Sunlight can affect more than the skin. Acute, intense ultraviolet exposure may injure the corneal surface and cause photokeratitis, producing pain, watering, light sensitivity and blurred vision. Exposure over years is associated with pterygium a fleshy growth on the eye and certain forms of cataract.

Choose sunglasses labelled UV400 or offering 99–100 per cent UVA and UVB protection. Dark lenses without verified UV protection are not adequate. A broad-brimmed hat provides protection.

Also read: US FDA Launches Expedited IND Pilot To Speed Up Drug Trials

Air Pollution and Ocular-Surface Inflammation

Particulate matter, vehicle emissions, smoke, ozone and construction dust come into direct contact with the tear film. They may destabilise it and trigger inflammation, worsening dry eye, redness and allergic conjunctivitis. On days with poor air quality, limit avoidable outdoor exposure, use wraparound glasses and avoid rubbing the eyes.

Artificial tears may wash irritants from the surface, but persistent symptoms require examination rather than repeated use of over-the-counter “whitening” drops.

Longer Allergy Seasons

Changing temperatures, rainfall patterns and plant cycles can alter the amount and timing of airborne pollen. Combined with dust and pollution, this may result in more frequent or prolonged allergic-eye symptoms. Intense itching, watering and swollen eyelids are typical.

Cold compresses can provide relief, but rubbing may damage the ocular surface and, in susceptible people, contribute to corneal problems. Anti-allergy drops should be selected with medical guidance. Steroid eye drops must never be self-prescribed because misuse can raise eye pressure, promote infection and damage vision.

Also read: Bouncy Castles Linked To MRSA Outbreak In 48 Children In Ireland

Eye Infections After Extreme Rainfall and Flooding

Heavy rain, waterlogging and disrupted sanitation increase exposure to contaminated water and surfaces. Crowding during outbreaks may also facilitate the spread of infectious conjunctivitis through hands, towels, cosmetics and shared personal items.

Do not splash floodwater or questionable tap water into the eyes, and never rinse contact lenses with water. Pain, marked light sensitivity, reduced vision, corneal whiteness or symptoms in a contact-lens wearer require urgent assessment.

Climate-related eye problems are not confined to one season. Prevention begins with UV protection, clean hands, hydration, sensible exposure reduction and timely eye examinations. Sudden loss of vision, severe pain, flashes, new floaters or an eye injury should always be treated as an emergency.

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.