What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

Updated Feb 7, 2025 | 08:00 AM IST

SummaryAlkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, cartilage damage, and skin discoloration. It has no cure but can be managed.
What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

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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.

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101-Year-Old Chinese Grandmother Shares Her ‘Weird’ Habits For Longevity

Updated Jan 26, 2026 | 01:49 PM IST

SummaryAs researchers continue to hunt the secret to a long life, this grandmother proves it is a much bigger science than we realize. Staying up late and snacking at odd hours were a few of the things this 101-year-old woman revealed. Here is what she claims helps her live for long

Jiang Yueqin, a 101-year old Chinese grandmother is changing the way people look at longevity online. While most people think her long life is due to a strict diet and routine, Yueqin credits her long life to her mindset, reports South China Morning Post.

Yueqin, who lives in Wenzhou, Zhejiang province, has developed a unique schedule over the last two years. While most people are turning into early risers, she sticks to being a ‘night owl’. She stays up until 2AM every single night, spending her time watching her favorite television programs.

Yueqin usually falls into a deep, high-quality sleep within minutes of her lying down on her hard the pillow. Once she is up and ready for the day, her first task is to enjoy a strong, refreshing cup of green tea.

How Can Your Mindset Affect Longevity?

When asked how her mother reached 101 while ignoring traditional health rules, Yueqin says it isn't just about the tea or the sleep, it’s about her mental outlook. The longevity expert lives with an extraordinary sense of clarity and peace. She chooses not to hold onto anger and never carries a grudge, regardless of what happens in her life.

Yueqin’s philosophy is simple: she addresses the problems she can solve and does not worry over the ones she cannot.

And researchers at the University of Florida agree.

They explain that when the body is in a state of stress for weeks or months, it keeps pumping out a hormone called cortisol. While cortisol helps you handle quick emergencies, excessive amounts of it in your system for too long acts like a toxin. This chemical imbalance can lead to several serious health problems that directly impact how long you live.

Online followers have praised her family’s support, noting that a stress-free environment and a positive attitude are likely the true "superfoods" behind her long and happy life.

What Else Does Yueqin Do?

One of the most surprising things about the expert is her physical health. Remarkably, at 101 years old, she still has all of her natural teeth and has never needed a single dental procedure or dentures.

Her eating habits are just as lively as her schedule. She eats brunch in the morning and dinner around 6:00 PM, but she often gets hungry again around 9:00 PM. When those late-night cravings hit, she reaches for local crispy pastries or modern snacks like potato chips, rice cakes, and dried sweet potatoes, treats which are usually preferred by much younger people.

Yueqin lifestyle is a clear sign mindset is as important as is eating well and exercising to live a long life

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Bacterial Vaginosis Is Not Just A Women’s Issue, Experts Say Men Can Be Affected Too

Updated Jan 26, 2026 | 01:00 AM IST

SummaryBacterial vaginosis is often treated as a women-only condition, but new research shows it can be sexually transmitted. Here’s what BV is, whether men can be affected, and why partner treatment matters.
bacterial vaginosis

Credits: AI Generated

Bacterial vaginosis (BV) is among the most common vaginal conditions and develops when the natural balance of bacteria in the vagina is disrupted. If you have experienced it before, the symptoms are likely familiar: a strong fish-like smell, changes in vaginal discharge, and persistent discomfort. Because BV is usually framed as a condition affecting people with vaginas, it raises an important question many people still ask: can men get bacterial vaginosis too?

What Is Bacterial Vaginosis (BV)?

Bacterial vaginosis occurs when healthy lactobacilli bacteria in the vagina decline, allowing other bacteria, such as Gardnerella, to multiply. This imbalance typically causes thin grey or white discharge with a noticeable fishy odor, which often becomes stronger after sex.

Although BV is not classified as a sexually transmitted infection, it does raise the risk of acquiring STIs and can lead to pregnancy complications, including preterm birth. Diagnosis is made by a healthcare professional, and treatment usually involves antibiotics like metronidazole or clindamycin. Even after treatment, BV is known to return in many cases.

Bacterial Vaginosis Symptoms And Causes

As many as 84 percent of people with BV may not notice any symptoms at all. When symptoms do appear, they can include:

  • Vaginal discharge that looks off-white, grey, or slightly green
  • A fishy-smelling discharge, especially after intercourse
  • Itching or irritation in the vaginal area
  • A burning sensation while urinating
Because these symptoms overlap with other vaginal infections, seeing a healthcare provider is essential to confirm whether it is BV or something else.

Can Men Get Bacterial Vaginosis?

A major study published in The New England Journal of Medicine has challenged long-held beliefs about BV. The research showed that BV can be passed through sexual contact and that treating male partners significantly lowers the chance of the infection coming back. These findings have already influenced medical guidelines in the United States, ending years of treating BV as a condition affecting only women, despite frequent recurrence.

The study suggests that persistent BV was not due to poor treatment adherence but rather incorrect assumptions about transmission. While BV is not a traditional STI caused by a single organism, it does spread through sex and thrives when the vaginal environment is disturbed. This has highlighted the limitations of strict STI definitions and the consequences of excluding partner treatment.

For both patients and clinicians, this shift matters. It reframes BV as a shared health concern rather than a problem limited to the vagina, helping reduce stigma and improve outcomes. It also exposes how narrow thinking in women’s health delayed better research, treatment strategies, and shared responsibility.

Bacterial Vaginosis: What Causes Similar Symptoms In Men?

Men cannot develop BV itself, but they can experience symptoms that resemble it, such as itching, unusual discharge, or unpleasant odors. Several conditions may be responsible.

Thrush

Thrush is a fungal infection caused by an overgrowth of Candida albicans. In men, it can lead to itching of the penis and a thick, clumpy buildup under the foreskin. Wearing tight clothing, excessive sweating, and poor ventilation of the genital area can increase risk. Thrush can be passed between partners during unprotected sex.

STIs

Several sexually transmitted infections caused by bacteria can mimic BV-like symptoms in men. These include:

  • Gonorrhea
  • Chlamydia
  • Trichomoniasis
  • Genital herpes
  • Human immunodeficiency virus (HIV)

STIs are typically spread through unprotected sexual contact.

Urinary Tract Infection

Although UTIs are more commonly associated with women, men can develop them too. This happens when bacteria multiply in the bladder or urinary tract. Symptoms may include:

  • Inflammation
  • Pain or burning during urination
  • Blood in the urine

UTIs often occur when Escherichia coli bacteria enter the urinary tract through the urethra and move upward.

Balanitis

Balanitis refers to inflammation of the skin at the tip of the penis. It is more common in men who are uncircumcised and may make it difficult to retract the foreskin due to swelling. Possible causes include:

  • Overwashing or poor hygiene
  • Use of scented or irritating products
  • Sexually transmitted infections
  • Reactive arthritis
  • Poorly controlled diabetes

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Vitamin D Overdose Sends Man To Hospital In UK, Doctors Warn

Updated Jan 25, 2026 | 11:00 PM IST

Summary Doctors are warning about the dangers of vitamin D overdose after a man was hospitalised with hypervitaminosis D. The article explains how excess supplementation can cause serious symptoms, who is most at risk, safe dosage limits, and NHS guidance on vitamin D use.
vitamin d overdose

Credits: AI Generated

People can end up in hospital if they take too much vitamin D, doctors have warned. Health experts say excessive intake can be harmful, with cases of hypervitaminosis D rising and linked to a range of serious health problems. Women, children, and people with existing illnesses are considered more vulnerable to the condition.

Doctors Warn Vitamin D Overdose Can Lead To Hospitalisation

The warning follows the case of a middle-aged man in the UK who was admitted to hospital after first visiting his family doctor. He complained of persistent vomiting, nausea, chest pain, leg cramps, ringing in his ears, dry mouth, intense thirst, diarrhoea, and unexplained weight loss.

His symptoms had lasted for nearly three months and began after he started seeing a nutritional therapist who recommended multiple vitamin and dietary supplements.

The patient already had several underlying health conditions, including tuberculosis, an inner ear tumour that had caused hearing loss in one ear, a build-up of fluid in the brain, bacterial meningitis, and chronic sinusitis.

What Is Hypervitaminosis D?

Vitamin D toxicity, also known as hypervitaminosis D, occurs when vitamin D levels build up excessively in the body. It is uncommon and usually results from taking doses that exceed medical advice, either through high-strength prescription vitamin D or excessive use of over-the-counter supplements taken without guidance.

Daily Intake Exceeded Recommended Vitamin D Levels

Doctors found that he had been taking more than 20 over-the-counter supplements every day. Together, they contained more than 80 times the recommended daily amount of vitamin D. He was consuming around 50,000 micrograms daily, despite the advised dose being just 600 micrograms. The mix of supplements also included excessive vitamin B9 and omega-3, alongside other vitamins, minerals, nutrients, and probiotics.

Although he stopped taking the supplements once symptoms appeared, his condition did not improve. Blood tests later showed his vitamin D levels were seven times higher than what is considered healthy. He also had dangerously high calcium levels and slightly raised magnesium levels.

Doctors found that his kidneys were not functioning properly, though scans ruled out cancer.

Patient Treated In Hospital For Eight Days With Fluids And Medication

The man remained in hospital for eight days, where he was treated with intravenous fluids to flush excess substances from his body. He was also given medications typically used to strengthen bones and reduce calcium levels in the blood.

Two months after leaving hospital, his calcium levels had returned to normal, but his vitamin D levels were still above the healthy range. NHS advises sticking to recommended vitamin D doses, especially in winter

Vitamin D can be obtained naturally from sunlight, oily fish, and wild mushrooms. The NHS advises people to follow recommended doses, particularly during autumn and winter when sunlight exposure is limited. It recommends that everyone over the age of one consider taking a daily supplement of 10 micrograms, or 400 IU, from October to March.

Hypervitaminosis D Is Rising Globally

Researchers involved in the case said there is a growing global trend of hypervitaminosis D, a condition marked by unusually high vitamin D levels in the blood. Symptoms can last for several weeks.

The researchers noted that symptoms vary widely and can include drowsiness, confusion, apathy, psychosis, depression, stupor, coma, loss of appetite, chest pain, vomiting, constipation, stomach ulcers, pancreatitis, high blood pressure, irregular heart rhythms, and kidney problems. Inflammatory eye disease, joint stiffness, hearing loss, and deafness have also been reported.

While the condition remains relatively rare, experts stress that it is possible to overdose on vitamin D. They warned that supplements often seen as harmless can become toxic when taken in unsafe amounts or combined improperly. The findings were published in the journal BMJ Case Reports.

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