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.

Awareness about mental health has grown, but access to care remains a challenge. For women, stigma is only one barrier. Social and family responsibilities, financial dependence, caregiving, geographical gaps, and the tendency to dismiss symptoms as “hormonal” can also delay care, said experts on World Suicide Prevention Day 2026.

HealthandMe spoke to mental health experts about why awareness has not translated into equitable access to care.

WHO estimates that 6.9% of adult women globally have depression, compared with 4.6% of adult men — making depression about 1.5 times more common among women.

“Awareness has grown faster than access, but this isn't a gap women are failing to close on their own; it's a reflection of where women are placed in our social and family structures to begin with,” Dr Kavita, Child and Adolescent Psychiatrist, Founding Cohort Member, India Mental Health Alliance and Co-founder, Children First, told HealthandMe.

She said the gaps extend across diagnosis, research, interventions and care pathways. “Currently, care pathways, definitions, interventions and policies do not center women,” she said.

Why Women Delay Mental Healthcare

Dr Mimansa Singh Tanwar, Senior Clinical Psychologist and Head of the Fortis School Mental Health Program, said stigma is compounded by social and cultural barriers.

“Gender roles, unequal distribution of power, financial dependence, even the caregiving responsibilities, safety concerns, all of these are some of the social and cultural factors that affect women's access to mental health care,” she said.

Women may also put family responsibilities ahead of their own health.

“Women still tend to forego care because of the added responsibility that they continue to have when it comes to taking care of family and other responsibilities,” Tanwar told HealthandMe.

Dr Priyanka Mittal, Clinical Psychologist and Lead, IMHA, said financial dependence can limit women's ability to seek care.

“When a woman doesn't control her own finances, seeking help for her mental health isn't a decision she gets to make independently,” she said.

The expert highlighted how women's distress are often minimized.

“She's called ‘sensitive,’ ‘hormonal,’ or ‘going through her problems’ — rather than recognized as someone with a mental health concern worth addressing,” Mittal told HealthandMe.

When Symptoms Are Dismissed As ‘Hormonal’

Pregnancy, postpartum, perimenopause and menopause can involve biological changes that affect mood. But experts caution against treating persistent distress as simply hormonal.

WHO estimates that about 10% of pregnant women and 13% of women who have recently given birth experience a mental disorder, primarily depression.

“While there are biological changes that can affect our mood and can lead to anxiety, depression, irritability, and emotional exhaustion, these biological changes should not be only connoted as being hormonal and phase-like,” Tanwar said.

Dr Jothi Neeraja, Founder, Chairwoman and MD, Maarga MindCare Hospitals, said women's distress is often attributed to life circumstances rather than recognised as a mental health concern.

“During pregnancy, after childbirth and around menopause, symptoms may also be attributed only to hormonal changes,” she said.

Dr Kavita said even well-meaning explanations can delay care.

“A lot of it comes from genuinely well-meaning explanations,” she said. “Mood changes after childbirth are common, so families, and sometimes clinicians, default to ‘it's just hormones’ or ‘every new mother feels this way.’”

“Duration, severity and functional impact matter more than the explanation someone reaches for,” she said.

Rural Women Face Another Care Gap

The experts noted that access to mental health can be even more limited outside urban centers.

“If a woman reaches a medical system at all, it's usually a PHC, and usually for an emergency or childbirth — not for mental health,” Mittal said.

Tele-services such as Tele-MANAS and other free or affordable services have started helping bridge some of the gap, particularly in tier-two and rural areas, she said.

Dr Kavita also pointed to gaps in community-level mental health infrastructure, saying services closer to women may be too limited to provide meaningful care.

Access Is Not Enough

Starting treatment does not guarantee continuity of care. “Even if, let's say, care is started, the continuity with which one is able to maintain that may not be there again because of the multiple responsibilities that they have to bear,” Tanwar said.

Neeraja said mental healthcare must extend beyond helplines. “For women, however, access cannot end with a helpline,” she said.

She called for continuity of care, affordable specialists, screening through reproductive and primary healthcare services, privacy and stronger referral systems.

“Mental healthcare becomes meaningful when seeking help is easy, safe and followed by appropriate care,” she said.

Mittal described treatment as a chain in which every step matters.

“It's a series of events... you need to know it exists, then know where to go, then know the steps that follow. Miss any link, and the cycle of treatment or intervention breaks,” she said.

Building Women-Centered Mental Healthcare

The experts said mental healthcare should be integrated into services women already use.

“It would meet women where they already are, rather than expecting them to seek out psychiatry or therapy separately,” Dr Kavita said.

This could include mental health screening during antenatal and postnatal visits, training obstetricians and gynecologists to identify concerns, and helping primary-care providers recognise warning signs.

Families and partners can also play a role in recognizing changes and encouraging women to seek help.

Awareness, the experts said, must ultimately translate into accessible, affordable and continuous care. “Women-centered care isn't a separate track; it's the standard track for care, done well,” Dr Kavita said...

Prostate cancer remains the fourth most common cancer worldwide and the most frequently diagnosed cancer in men across most nations, with an estimated 1.5 million new cases and nearly 420,000 deaths in 2024 alone.

Despite how common it is, misinformation still shapes how men view their risk, symptoms, and treatment choices. Here's a closer look at some myths that just won't go away, and what the evidence actually says.

1. Myth: A high prostate-specific antigen (PSA) number automatically means cancer.

Fact: PSA can rise for reasons that have nothing to do with cancer, including prostatitis and an enlarged prostate (benign prostatic hyperplasia or BPH). A raised PSA is a cue to investigate further, not a diagnosis in itself.

2. Myth: Prostate cancer always comes with warning symptoms.

Fact: Early-stage disease is usually silent. Most men are picked up through screening or incidental testing, and symptoms like trouble urinating typically show up only once the cancer has advanced.

Also read: Hot Tea, Coffee May Triple Esophageal Cancer Risk: Study

3. Myth: Testosterone therapy fuels prostate cancer.

Fact: This idea comes from decades-old research. More recent studies haven’t found that testosterone replacement therapy meaningfully raises prostate cancer risk in most men, though doctors still monitor patients on it as a precaution.

4. Myth: No family history means you’re in the clear.

Fact: A family history does raise risk, but most men diagnosed have no affected close relative. Age, ethnicity, and lifestyle count just as much.

5. Myth: Treatment always leaves men permanently impotent or incontinent.

Fact: Side effects vary depending on the treatment, the person’s overall health, and the stage of cancer. Many men see real improvement within a year, and not everyone experiences these issues at all.

Also read: 9/11-Linked Cancer Cases Surge 75%: Why Researchers Are Concerned

6. Myth: Only older men need to worry about this.

Fact: Risk does climb with age, especially past 50, but men in their forties can be affected too, particularly with a strong family history or certain genetic mutations.

7. Myth: Getting a vasectomy raises your risk of prostate cancer.

Fact: Decades of research have consistently found no link between vasectomy and prostate cancer risk, despite how persistent this myth has been.

8. Myth: A prostate cancer diagnosis means your days are numbered.

Fact: Prostate cancer has one of the highest survival rates among major cancers when caught early, and many men live for decades after diagnosis. Outcomes depend heavily on the stage and grade at diagnosis, not the diagnosis itself, and many low-risk cases never need aggressive treatment at all.

9. Myth: How often a man ejaculates affects his prostate cancer risk.

Fact: Several large studies have found no such link, and some even suggest higher ejaculation frequency may be tied to slightly lower risk. It isn’t something men need to actively manage.

Created for general disease awareness only. Kindly consult your physician for any further information.

Are urologists seeing more difficult or complex kidney stones in recent years? Yes, it’s true. Nowadays the trend for oxalate stones and infective stones are rising

They both are complex in their treatment. Oxalate stones are hard, they are known to grow as per the shape of the internal structure of the kidney and are one of the hardest of all stones, at times, even hard for a laser to break them into fragments. Harder stones may need a second procedure to break them into finer fragments.

Infective stones primarily have infection within them, very common in diabetics and long term infected stones. These stones can fill up the kidney with pus and can be life threatening as well, causing diffuse infection in the blood, called as sepsis. With incidence of diabetes the management of these stones require considerable expertise and caution.

How can dehydration and not drinking enough water increase the risk of kidney stones?

The contemporary understanding of the genesis of kidney stones is the 'solute-solvent' theory. It means than more the amount of crystals (read solute viz oxalate crystals, uric acid crystals etc.) and less the amount of water, concentrated urine, lesser is the solubility of these crystals in the urine. Thus they sediment and cause faster stone formation.

Also read: What Happens When Kidney Function Declines: Understanding The Stages Of Chronic Kidney Disease

Can eating more processed foods, salt and protein than the body needs make kidney stones more likely?

Processed foods are high on oxalates and phosphorus. They act as the primary anion in stone formation. Thus promoting higher amount stone formation and harder stones as well. Also protein in urine helps in stabilising the already aggregated crystals, thus leading to a harder stone. Protein supplements are to be consumed only as per the contemporary need of the body after consulting a dietician

Can more fruits and vegetables and staying well hydrated help prevent kidney stones?

Definitely! Another point i want to make here is that there are some naturally occurring substances in urine which prevent stone formation, viz citrate. Higher the citrate levels in urine, lesser are the chances of stone formation. Thus it is advisable to have more citrate in diet (citrus fruits). For patients with recurrent stone formation in kidney, it is advisable to use citrate supplements. Another factor is blood uric acid levels.

Uric acid crystals can independently form a stone and it can deposit itself on already formed stone, making it later and more complex to treat. Uric acid is majorly found in animal based diet. There are other factors which may reduce the stone formation, however till date only proven thing to prevent stone is abundant citrate and good amount of water intake. All fruits have variable amount of citrate however citrus fruits have the most.

By Dr. Sony Mehta, Consultant Urologist, Saifee Hospital, Mumbai