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.

The view generally is that the occurrence of knee issues is usually associated with age, injury or overexertion. However, there is another reason people ignore: lack of movement. If a person leads an inactive lifestyle, spending long hours sitting at a desk, working from the couch, watching TV or doing nothing physical, the eventual consequences for the knees might arise.

Knees are created for motion, and motion is essential for keeping the flexibility of a joint. Their effective functioning depends on the health of the muscles surrounding your knee. The less active various leg muscles are, including quadriceps and other counterparts, the weaker they will be. The muscles help stabilize the knee and can relieve it from some of the burdens during daily activities performed by the knees.

Remaining seated for an extended time can also lead to stiffness. When you sit for a while, you may feel uncomfortable or stiff in your knees when you finally stand up. While the occasional instance of stiffness may go away with movement, constant stiffness can impact mobility and cause people to wish to move even less.

Another issue is gaining weight. Living a sedentary lifestyle causes individuals to become heavier, and excess weight puts more stress on the knees. In time, this added pressure will lead to increased wear of the joints and the development of knee pain and other problems in the musculoskeletal system.

The positive aspect with respect to your knees is that you don’t have to put in hours at the gym to keep them safe. Small, steady efforts can easily do the trick. You can choose to walk for five minutes after being seated for a long time, stretch regularly, take stairs if you are physically able and do some simple workouts for the legs and thighs to increase strength. Low-impact sports such as swimming, cycling and walking can help you maintain muscle power and flexible joints while avoiding the stress on your knees resulting from extensive workouts.

Persistent pain in the knee, however, cannot be treated as a usual symptom of ageing. Knee swelling or prolonged stiffness, difficulties climbing stairs, instability, or pain that has an impact on routine activities should be addressed by health professionals.

Movement is necessary for knees to be strong and flexible. Therefore, if you want your knees to be strong, you need to use them consistently and perform all activities without remaining still for long.

(By Dr Sujoy Bhattacharjee, Chairman & Chief, Max Institute of Robotic Joint Replacement, Max Super Speciality Hospital, Saket)

Blocked ears are one of the most common and irritating problems associated with air travel.

While the sensation usually resolves on its own shortly after landing, for 22-year-old Aida Burkins from California, it persisted and eventually led to a frightening diagnosis of rare head and neck cancer.

Blocked Ears Persisted After Flight

Burkins was travelling to Chicago in May 2025 when her ears became blocked. When she returned home, her ears still hadn’t popped.

She later developed unusual symptoms, including hearing loss and bleeding from her throat.

“I started bleeding into my throat, which would only come out of my nose if I was bent at the hip at about 90 degrees,” the 22-year-old told Newsweek. “My hearing got worse and worse. Then I started getting more tired and losing weight.”

Symptoms Were Initially Dismissed

When Burkins sought medical help, her condition was initially dismissed as “just altitude sickness.” After several months, her hearing had deteriorated significantly.

“Everything sounded so muffled, and I had a ringing that wouldn’t go away,” she said.

Burkins eventually saw an ear, nose, and throat (ENT) specialist, who discovered a mass and noted that her adenoids — soft tissue in the throat, just behind the nose — were inflamed.

“The doctor told me he had never seen anything quite like what I had going on. He couldn’t be sure it was cancer, but he said it was very suspicious,” she told the outlet.

Diagnosed With Rare Head And Neck Cancer

In February 2026, after undergoing CT scans and two biopsies, Burkins learned that she had a widespread tumour affecting the cervical lymph nodes near the base of her skull.

She was diagnosed with nasopharyngeal carcinoma, a rare type of head and neck cancer that starts in the upper part of the throat behind the nose and near the base of the skull, according to the American Cancer Society.

“Hearing I have cancer, all I thought about was not being able to see my babies grow up or do the things they want to do in life. It was horrifying,” Burkins, who is a mother to a 1-year-old and 3-year-old.

Burkins has since undergone months of chemotherapy and radiation. She is now finishing her treatment and hopes to be cancer-free soon as her body is responding well to the treatments.

What Is Nasopharyngeal Carcinoma?

According to the Mayo Clinic, nasopharyngeal carcinoma is a cancer that starts as a growth of cells in the nasopharynx, the upper part of the throat located behind the nose.

The cancer is rare in the United States and occurs much more often in other parts of the world, particularly Southeast Asia.

Nasopharyngeal carcinoma can be difficult to detect early because the nasopharynx is not easy to examine and there may be no symptoms initially.

Symptoms To Watch For

When symptoms do occur, they present non-classic signs which include:

• A lump in the neck caused by a swollen lymph node
• Nosebleeds
• Bloody saliva
• Double vision
• Ear infections
• Facial numbness
• Headaches
• Hearing loss
• Nasal stuffiness
• Ringing in the ears, known as tinnitus
• Sore throat

How Is It Treated?

Treatment for nasopharyngeal carcinoma usually involves radiation therapy, chemotherapy, or a combination of the two, depending on the cancer and the individual patient.

Perimenopause has become a regular conversation and its been high time that people are talking about it. You can see friends discussing it, social media coverage has increased and more importantly women are discussing this with their gynaecologists.

For decades, menopause was thought to be a single event - that is the day the periods stopped, but today we understand that the transition lasts for a few years. These changes can affect the quality of a woman’s life and hence I’m glad the conversation has gained more traction.

Perimenopause-Related Changes

Also read: Yoga Or Strength Training: What Can Help Manage Hot Flashes During Perimenopause?

First lets understand what perimenopause is. It literally means “around menopause” Its a transition phase where the ovaries gradually change the production of the hormones, mainly oestrogen and progesterone. It usually begins in the early 40’s but some women may experience it earlier.

One of the commonest signs of this is a change in the pattern of your menstrual cycle. Periods can be become longer or shorter, heavier or lighter. Basically the menstrual cycle becomes a bit unpredictable.

But periods aren’t the only sign. A woman may start experiencing disturbed sleep cycles. She may wake up randomly at 3am or feel exhausted despite getting 7-8 hours of sleep. Hot flushes and night sweats may also occur. Mood changes, irritability, anxiety and difficulty in concentration can also affect her quality of life.

Some women complain of being forgetful or more commonly used term "experience brain fog”. They forget names, lose train of though or struggle to multitask. There can also be a change in libido, vaginal dryness, discomfort during intercourse, headaches, join pain and alterations in skin and hair.

Besides this there could possibly a change in the body composition. A woman may notice increasing abdominal fat or find difficulty in maintaining her weight even though her lifestyle hasn’t changed.

Why The Current Focus On Wellness Is Important?

Also read: Explained: Why Some Women Start Experiencing Joint Pain As They Approach Menopause

The good part of this increase in awareness is that women are paying more attention to their health early rather than waiting of menopause. This transition phase provides a golden opportunity to reassess exercise, nutrition, sleep and preventative healthcare.

Strength training becomes even more valuable as it helps maintain muscle and bone mass.

Adequate protein, calcium and Vitamin D intake along with a balanced diet helps long term metabolic and bone health.

During this time, its important for a woman to even assess her cardiovascular health. Blood pressure, cholesterol, blood sugar and weight don’t just become numbers on the chart anymore, they become important markers of future health during this time.

Not Every Symptom Should Be Blamed On Hormones

However every label shouldn’t be blamed on perimenopause. Thyroid disorders, anaemia, vitamin deficiencies, depression and few other medical conditions can produce similar symptoms.

Unusually heavy bleeding, bleeding between periods or after intercourse also warrants medical assessment rather than being dismissed as “just hormones”.