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.

What began as a typical sports injury for a teenage volleyball player turned into a life-altering medical discovery. McKinnon Galloway, now 33, learned she had a rare genetic condition called neurofibromatosis type 2 (NF2) after a fall during a volleyball match led doctors to perform a routine brain scan.

Galloway was just 16 and playing as a setter on her school volleyball team when she dove for the ball and hit her head on the ground. Concerned about a concussion, doctors ordered an MRI scan. Instead of a simple injury, the scan revealed two tumors in her brain.

Doctors soon confirmed she had neurofibromatosis type 2, a rare genetic disorder that causes tumors to grow on nerves throughout the body.

NF2 occurs when a gene responsible for regulating nerve growth does not function properly. Without this signal telling nerve cells to stop growing, tumors can form along nerves and press on surrounding structures or disrupt nerve function.

Tumors multiplied quickly

When doctors first detected the tumors, they described them as slow growing. But within six months, follow-up scans showed the tumors had doubled in size.

Over the years, the condition progressed. Today Galloway lives with 13 tumors located in different parts of her body. Six are in her spine, three are in her hand, two are in her neck, and two remain in her brain.

To manage the disease, she has undergone several treatments including chemotherapy drugs, radiation therapy, and experimental medical trials. She was prescribed Avastin, a medication originally used to treat breast cancer, in an attempt to slow tumor growth.

At age 21 she also joined a phase-one clinical trial in which researchers tested increasing doses of an experimental drug to evaluate its safety. The trial was eventually stopped for her after she developed adverse reactions.

Hearing loss and multiple surgeries

The most difficult consequences of NF2 have been related to hearing loss caused by tumors affecting auditory nerves. Galloway has undergone four brain surgeries in attempts to remove or control the growth of these tumors.

After the first operations she lost hearing in her right ear. Over the next decade her hearing gradually declined in the left ear as well.

In early 2022, during a family vacation, she woke up unable to hear anything. Initially she believed the television in the room had been muted, but quickly realized she had lost her hearing entirely.

Steroid treatment temporarily restored about 20 percent of hearing in one ear. However, another brain surgery later that year resulted in complete deafness.

The operation, which lasted nearly 10 hours, was intended to remove a tumor threatening her life. Complications during surgery left her hospitalized for weeks and forced her to adapt to a completely silent world.

Finding a new purpose

In the months that followed, Galloway struggled with isolation because she had not yet learned effective ways to communicate without hearing. Over time, assistive technology and digital communication tools helped her reconnect with people around her.

She has since become a content creator and public speaker, using social media to raise awareness about NF2 and educate others about technology that supports deaf individuals.

Her advocacy work also includes supporting research efforts and raising funds for organizations dedicated to neurofibromatosis research.

Despite years of treatments, surgeries and uncertainty, Galloway recently received encouraging news. Her latest medical scan showed stable tumor growth for the first time in four years.

Today she continues to share her experience in hopes of helping other families facing the rare disorder.

“Being diagnosed at 16 meant I still had a childhood,” she said. “Many children with this condition spend those years in hospitals, and they deserve more than that.”

While research shows women need more sleep than men due to brain function, hormones, and multitasking, females around the globe are struggling to get enough sleep, according to experts.

A 2016 study by the Sleep Research Centre at the UK’s Loughborough University found that women needed 20 minutes more sleep because of multitasking and performing more complex brain tasks during the day.

But, the American Academy of Sleep Medicine (AASM), revealed that an estimated 30 percent of women fail to get sufficient sleep.

Hormones, mood disorders, and caregiving responsibilities, coupled with professional pressures and stress, are the major reasons driving up insomnia and other sleep issues among women.

“Women around the world face a higher burden of sleep difficulties because their sleep cycles are tightly interlinked with hormonal shifts that occur throughout life,” Dr. Janhvi Siroya Shah, Sleep Specialist from the University of Bern, Switzerland, told HealthandMe.

Gender Gap In Sleep: Why Women Sleep Less

The gender gap in sleep is real, as revealed by the recent ResMed Global Sleep Survey 2026, which showed that 56 percent of women get a good night's sleep only four days or fewer per week, compared to 50 percent of men.

Women were also 48 percent more likely to report problems falling asleep than men (42 percent). More than 50 percent of women felt waking up not feeling rested for 1-2 nights per week or more, compared to 46 percent of men.

The study flagged stress or anxiety as the biggest barrier to consistent, quality sleep (39 per cent), followed by work-related responsibilities (37 per cent) and household duties (31 per cent) among women.

Speaking to HealthandMe, Dr. Kirti Kadian, from the Department of Pulmonary Critical Care & Sleep Medicine at AIIMS Bhopal, said: “Women experience disproportionate sleep challenges globally, largely because their bodies undergo repeated physiological transitions that influence how sleep is regulated.”

The experts cited the main reasons as

• fluctuations during menstruation,
• pregnancy,
• postpartum recovery
• menopause.

All these factors can alter mood regulation, increase nighttime alertness, and disrupt the architecture of sleep itself.

Dr Kadian said that hormonal fluctuations across the life course -- especially during the menopausal transition -- can affect circadian rhythm, airway stability, pain sensitivity, and the nervous system’s response to stress.

“When these biological changes coincide with external stressors, such as multitasking, emotional labor or caregiving demands, women become far more vulnerable to insomnia and unrefreshing sleep,” Shah said.

The prevalence of sleep disorders increases from about 16–42 percent in pre-menopause to around 39–47 percent in peri-menopause and up to 35–69 percent in post-menopause, indicating that sleep disturbances become more common as women progress through different reproductive stages.

“Declining levels of estrogen and progesterone can disrupt the body’s sleep regulation and trigger symptoms like hot flashes and night sweats, while reduced melatonin may make it harder to fall and stay asleep,” Dr. Kadian explained.

In addition, certain medical conditions that are more common in women, such as thyroid disorders, anemia, and autoimmune diseases, can also negatively affect sleep and overall health.

How Poor Sleep Affects Women

Poor sleep also significantly affects both physical and mental health, increasing the risk of

• metabolic disorders,
• cardiovascular disease,
• weakened immunity,
• persistent fatigue,
• reduced concentration,
• irritability,
• anxiety,
• depression.

How Women can Improve their Sleep

The Harvard Medical School suggested that to get a better sleep cycle women should:

• Create a sleep sanctuary by removing the television, computer, smartphone or tablet, from the bedroom.
• Cut down or limit afternoon naps to 20 to 30 minutes
• Avoid caffeine after noon
• Get regular exercise, but not within three hours of bedtime.

While early-stage research raised hopes of oral semaglutide (GLP-1 pill) slowing down the progression of Alzheimer’s disease, results of a new large-scale clinical trial have rendered it ineffective.

Evoke and Evoke+ -- the randomized, double-blind, placebo-controlled phase 3 trials conducted across 566 sites in 40 countries -- showed that semaglutide led to no significant difference after two years.

The findings, published in the Lancet journal, however, revealed that the popular weight loss drug can lead to significant reductions in several biological markers of Alzheimer’s disease.

Yet, it did not help slow the progression of the neurodegenerative disease, said an international team of researchers, including those from the University of California-San Diego.

"Oral semaglutide was not efficacious in slowing clinical progression in participants with early Alzheimer's disease," they said in the paper.

"Safety and tolerability of semaglutide in early Alzheimer's disease is consistent with studies in other indications," the team added.

The EVOKE and EVOKE+ trials

The studies are the first major phase 3 trials to investigate this possibility in people with early Alzheimer’s disease.

The researchers conducted the trial on about 3,800 patients aged 55-85 years. The patients received either up to 14 mg of oral semaglutide daily or a placebo pill.

After two years, no significant difference was seen in slowing down the cognitive disease's progression in patients taking semaglutide and patients taking the placebo.

"The results of the large evoke(+) trials do not support the efficacy of 14 mg/day of semaglutide given for up to 156 weeks in participants with biomarker-confirmed Alzheimer's disease in the MCI or mild dementia stage," the researchers said.

While “GLP-1 [drugs] have given us so many wonderful results," the trial results are "disappointing,” and “a setback for the field”, endocrinologist Daniel Drucker was quoted as saying to the Scientific American.

Drucker says there are many potential explanations why oral semaglutide didn’t work as hoped. The fatty-acid structure surrounding semaglutide might have prevented it from being able to penetrate certain brain regions, such as the hippocampus, which controls memory and cognitive function.

What Is Alzheimer’s Disease

Alzheimer's disease is a progressive neurodegenerative disease characterised by gradual cognitive and functional decline.

It is one of the most common forms of dementia and mostly affects adults over the age of 65.

Over seven million people in the US, 65 and older, live with the condition, and over 100,00 die from it annually.

The disease is believed to be caused by the development of toxic amyloid and beta proteins in the brain, which can accumulate and damage cells responsible for memory.

Early symptoms of Alzheimer's disease include forgetting recent events or conversations. Other signs include:

• losing or misplacing things
• getting lost when walking or driving
• being confused, even in familiar places
• losing track of time
• difficulties solving problems or making decisions
• difficulties performing familiar tasks
• misjudging distances to objects visually.