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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PCOD vs PCOS vs PMOS: Why The Condition’s Name Has Changed Over Time

Updated May 13, 2026 | 04:00 PM IST

SummaryFrom just being a reproductive or ovarian disorder, PMOS is now being recognized as a complex hormonal and metabolic condition that can affect everything from periods and fertility to weight, insulin resistance, heart health, skin, and mental well-being.
PCOD vs PCOS vs PMOS: Why The Condition’s Name Has Changed Over Time

Credit: AI generated image

From Polycystic Ovarian Disease (PCOD) to Polycystic Ovary Syndrome (PCOS) and now Polyendocrine Metabolic Ovarian Syndrome (PMOS) — confused about what the changing terminology means for women’s health and treatment?

What was once seen mainly as a reproductive or ovarian disorder is now being recognized as a complex hormonal and metabolic condition that can affect everything from periods and fertility to weight, insulin resistance, heart health, skin, and mental well-being.

To better understand the distinction between the three, let’s look at how the condition has evolved.

The condition, involving irregular periods, infertility, excess facial hair, and enlarged ovaries containing multiple cysts, was first identified as an ovarian or reproductive disorder in the 1930s by American gynecologists Dr. Irving Stein and Dr. Michael Leventhal. It became known as Stein-Leventhal Syndrome.

Over the years, the term PCOD became widely used, especially in countries like India. The name focused mainly on the presence of multiple ovarian cysts seen on ultrasound scans. It was considered a “disease” affecting ovulation and fertility.

Further, in the 1980s and 1990s, experts discovered that the condition involved hormonal imbalances, insulin resistance, weight gain, diabetes risk, and heart health concerns, among others.

Because it affected multiple body systems, PCOS became the medically preferred global term. The word “syndrome” was used to describe a group of related symptoms rather than a single disease.

However, many experts argued that the name still overemphasized ovarian cysts and fertility, and in 2012, the US National Institutes of Health (NIH) officially recommended changing the name, saying it was misleading because:

  • Not all women with the condition have cysts
  • Ovarian cysts alone are not enough for diagnosis
  • The name ignores the metabolic and hormonal aspects
Importantly, experts said the terminology also delayed diagnosis and contributed to stigma around fertility.

In 2026, global experts publishing in The Lancet proposed the new name -- PMOS – for the condition affecting more than 170 million women worldwide.

The new term PMOS acknowledges that the condition involves:

  • Endocrine health
  • Metabolic health
  • Reproductive health
  • Dermatological health
  • Psychological health.

What Does PMOS Mean?

Also read: PCOS Is Now PMOS: What The Name Change Means For Millions Of Women

The new name aims to explain the condition more accurately and comprehensively.

Polyendocrine means it affects multiple hormones in the body.

Metabolic refers to issues linked to weight, insulin, blood sugar, and heart health.

Ovarian highlights its impact on ovulation and reproductive health.

Syndrome refers to a group of symptoms occurring together.

In simple terms, PMOS is a hormonal and metabolic condition that can affect periods, fertility, skin, mood, weight, and long-term health.

What The Name Change Means For Women

Speaking to HealthandMe, Dr Monika Bhatia Director — Obstetrics & Gynaecology Robotic and Laparoscopic Surgeon Cloudnine Group of Hospitals, said that the earlier name was misleading because the "cysts" in PCOS are not real cysts — they are simply small, arrested follicles.

While the name has changed, the message remains the same.

“Behind every diagnosis is a woman trying to understand her body, hormones, emotions, and health. While this condition may affect periods, fertility, metabolism, skin, weight, or mental well-being differently, one thing remains common — it is manageable with the right guidance,” she said.

The core treatment stays the same as the guidelines for treatment have not changed, but the approach becomes wider.

“So instead of just treating the periods, PMOS is now managed as a whole-body condition involving a multidisciplinary team”.

Will there be any change to evaluation?

Dr Muskaan Chhabra, Fertility Specialist, Birla Fertility & IVF, Lajpat Nagar, told HealthandMe that the new name –PMOS- correctly acknowledges that this is a multisystem condition involving complex interactions between insulin, androgens, and neuroendocrine hormones.

In PMOS, the ovaries are one of several systems involved rather than the primary site of the problem.

This “opens the door to more comprehensive clinical evaluation, earlier and more accurate diagnosis, and treatment approaches that address the full hormonal and metabolic picture rather than a narrow reproductive one,” Dr Muskaan said. It will also “drive more integrated and personalized care”.

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Hantavirus Can Linger Indoors, Spread Through Contaminated Dust, Says Infectious Disease Expert

Updated May 13, 2026 | 11:45 AM IST

SummaryDr. Vasant C. Nagvekar from Lilavati Hospital said that the Andes strain rarely transmits person-to-person and emphasized the need for global prevention through enhanced surveillance, early detection, vector control, environmental sanitation, and public awareness, particularly amid urbanization, climate change, and ecosystem disruption.
Hantavirus Can Linger Indoors, Spread Through Contaminated Dust, Says Infectious Disease Expert

Credit: AI generated image

Hantavirus has the potential to linger indoors and spread through contaminated dust, especially in rodent-infested, poorly ventilated spaces, according to infectious disease expert Dr. Vasant C. Nagvekar.

So far, 11 people linked to the MV Hondius cruise ship have been affected. While all passengers have been repatriated and quarantined, the World Health Organization (WHO) anticipates that additional cases may emerge based on observed symptoms.

Also Read: Hantavirus Cases Climb To 11; WHO Warns Countries Of Further Spread

In an exclusive interview with HealthandMe, Dr. Vasant, a Consultant in Infectious Diseases and Internal Medicine at Lilavati Hospital and Research Center, Mumbai, explained how the virus can spread even within indoor environments. He noted that contaminated dust and surfaces are potential sources of transmission, making proper hygiene and preventive measures crucial.

The expert also stated that the Andes strain rarely transmits person-to-person and emphasized the need for global prevention through enhanced surveillance, early detection, vector control, environmental sanitation, and public awareness, particularly amid urbanization, climate change, and ecosystem disruption.

Here are the excerpts from the interview

Q. How Long Does Hantavirus Survive?

Dr. Vasant: Hantavirus does not survive for long outside a host body and is rapidly inactivated by exposure to sunlight, detergents, and drying.

However, in enclosed indoor environments that are cool with temperatures at 4 degrees Celsius or less, poorly ventilated, and contaminated with rodent urine or feces, the virus may remain infectious for several hours or even longer.

Q. Is Hantavirus Airborne?

Dr. Vasant: Yes, the virus can be transmitted indirectly through the air. However, hantavirus does not circulate freely in the air in the same way as influenza or coronavirus during normal social interactions.

It becomes airborne when contaminated rodent urine, droppings, or nesting materials are disturbed during activities such as sweeping or cleaning. At that point, the virus can be aerosolized and inhaled by people.

Q. How Can Hantavirus Spread Indoors?

Dr. Vasant: Indoor exposure usually takes place in environments where the presence of goes unnoticed – for example, in cabins, storage rooms, warehouses, inside false ceilings, or vacant rooms.

One could be exposed to hantavirus through inhalation of contaminated dust when a room that has not been used for a while is opened or is cleaned without any protective measures.

Also read: Fact Check: Can Ivermectin Help Treat Hantavirus?

The reason why hantavirus exposure is alarming is that it usually takes place during normal activities, which we do without even suspecting anything dangerous.

Q. How Does the Andes Strain of Hantavirus Spread?

Dr. Vasant: The Andes hantavirus stands out because, unlike most other hantaviruses, it exhibits evidence of rare person-to-person transmission, mostly through direct and extended contact between people. As a result, this particular strain is highly interesting for scientists studying infectious diseases around the world and is extensively researched as such. It should be noted, however, that person-to-person transmission is very rare in comparison to respiratory pathogens, such as the influenza virus or SARS-CoV-2.

Read More: Why The Norovirus Outbreak On A Caribbean Cruise Ship Is Not A Cause for Panic

Q. What global strategies are needed to prevent the emergence of new viruses?

Dr. Vasant: What is required from our world in terms of the prevention of new viruses is a globally integrated strategy within the public health sector.

Surveillance systems should become more advanced on community levels, especially when there are high risks of increased contact between humans and animals because of urbanization, climate change, and ecosystem destruction.

Early detection, information exchange at the international level, vector control, environmental sanitation, and public awareness are just as significant. New infection strains cannot remain limited to just being a problem of individual countries.

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NEET-UG 2026 Cancelled: Experts Warn Of Panic, Emotional Distress Among Students

Updated May 12, 2026 | 08:00 PM IST

Summary​According to mental health experts, students can experience palpitations, migraines, insomnia, and constant worry about their rank and future. This setback should not be seen as a personal failure, they said, urging students to remain calm and parents to offer emotional support.
NEET-UG 2026 Cancelled: Experts Warn Of Panic, Emotional Distress Among Students

Credit: AI generated image

The National Testing Agency (NTA), which today cancelled the NEET-UG 2026 examination held on May 3 amid allegations of a paper leak, has left thousands of students across the country anxious, frustrated, and emotionally overwhelmed, triggering protests and outrage among students and parents.

According to mental health experts, such uncertainty can deeply affect students who have spent months preparing for the examination, often sacrificing sleep, proper meals, and their social lives. The sudden cancellation of the exam can therefore leave them feeling helpless, uncertain, and emotionally exhausted.

Experts stressed that this setback should not be seen as a personal failure and urged students to remain calm.

Speaking to HealthandMe, Dr. Aarti Anand, Senior Consultant Clinical Psychologist at the Department of Psychiatry, Sir Ganga Ram Hospital, said feelings of anger, helplessness, disappointment, and anxiety are natural during such situations, especially when the future appears uncertain.

“It is very natural to feel anxious and helpless at this point, but remember that you are not alone in this situation. Thousands of students are going to be affected,” she said.

She also emphasized that students should not assume that their hard work has gone to waste.

NEET-UG 2026: What Is The Controversy All About?

The National Eligibility cum Entrance Test (NEET-UG) is India’s primary national-level entrance examination conducted by the National Testing Agency (NTA) for admission to undergraduate medical (MBBS), dental (BDS), and AYUSH courses in government and private institutions.

The single, standardized offline test for this year was conducted on May 3 for over 22.79 lakh candidates across India and abroad.

“The examination on 3 May 2026 was conducted as scheduled and under a full security protocol,” the NTA said.

However, according to information shared by Rajasthan Police officials, alleged malpractice came to light after certain question sets circulated before the examination reportedly showed similarities with the actual NEET-UG paper.

Also read: Fact Check: Can Ivermectin Help Treat Hantavirus?

Officials probing the matter stated that they recovered a document containing more than 400 questions that had allegedly been circulated days before the exam. Out of these, more than 100 questions from Biology and Chemistry were said to bear “striking similarities” to those that eventually appeared in the examination.

Authorities have described the material as resembling a “guess paper” or coaching-style test series, though investigators have not ruled out the possibility of a larger organized network.

The government has now ordered a comprehensive Central Bureau of Investigation (CBI) probe into the alleged irregularities surrounding the examination.

The NTA has also announced that the medical entrance test will be conducted again on fresh dates to be notified separately, a development that many students feel undermines the time and effort they invested in preparation.

NEET-UG 2026 Cancelled: What Effect Can This Have On Students?

Dr. Manisha Arora, Director - Internal Medicine at the CK Birla Hospital, Delhi, told HealthandMe that students can experience palpitations, migraines, insomnia, and constant worry about their rank and future.

“Postponement can feel like an identity suspension. Students start thinking, ‘What if I do not get the same marks next time? What if I have forgotten everything? What if the exam is harder? What if questions come from outside the syllabus?”

“These thoughts are very common. Students can also develop headaches, dizziness, stomach pain, nausea, diarrhea, insomnia, racing heartbeat, panic attacks, binge eating, or even loss of appetite,” Dr. Manisha said, warning parents and guardians to pay close attention to students’ mental well-being.

NEET-UG 2026 Cancelled: How Can Students Cope With The Stress?

Read More: Why The Norovirus Outbreak On A Caribbean Cruise Ship Is Not A Cause for Panic

“One important thing for students to understand is that the knowledge they have gained will not go to waste. They will be able to appear for the exam on the next date,” Dr. Aarti said.

She added that students must acknowledge their emotions instead of suppressing them.

“Students should acknowledge their feelings instead of suppressing them. They should use this pause as a way of structuring their life and moving ahead. They should focus on self-care, sleep, food, and hygiene instead of watching media discussions,” she said.

Mental health professionals also advised students to avoid excessive speculation and negative thinking about future examinations. Instead, they recommended maintaining routines, staying connected with family and friends, and continuing preparation steadily.

“I urge all students not to think negatively, overthink, or fuss about what will happen in the next exam. It is very important for students to keep calm and continue their preparation,” she said.

Dr. Aarti further noted that such moments can become a test of emotional strength and resilience for students navigating academic pressure.

“Students should not feel that the cancellation is a failure. It is not a failure,” she added.

Dr. Manisha urged students to build on the preparation they have already done, gradually remove exam fear from their minds, restart calmly, and prepare themselves to appear for the exam again.

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