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.

For most people, the arrival of monsoon brings welcome relief from the scorching summer heat. For physicians, however, it also signals the beginning of a season when managing chronic lifestyle diseases becomes significantly more challenging.

High humidity, fluctuating temperatures and a sharp rise in seasonal infections create conditions that can quietly destabilise diabetes, hypertension and heart disease, even in people whose conditions are otherwise well controlled.

Lifestyle diseases are often thought of as long-term conditions that progress gradually. Yet they are also highly sensitive to environmental changes. During the monsoon, the body works harder to regulate temperature and maintain normal circulation. High humidity reduces the body'sability to cool itself efficiently, increasing the workload on the heart. At the same time, sudden shifts between hot outdoor conditions and cold indoor environments can influence blood vessel function, leading to fluctuations in blood pressure. These physiological changes may seem subtle, but for individuals living with chronic illnesses, they can increase the likelihood of complications.

The season also brings a surge in viral, bacterial and mosquito-borne illnesses. Infections such as influenza, gastroenteritis, dengue, and fungal diseases are becoming more common, placing additional stress on the body. For people living with diabetes, even a relatively minor infection can upset blood sugar control. The body's response to illness triggers the release of stress hormones that increase blood glucose levels. In contrast, changes in appetite and food intake during illness may increase the risk of both hyperglycaemia and hypoglycaemia if medications or insulin are not adjusted appropriately under medical supervision.

Beyond infections, the monsoon often disrupts everyday routines that are essential for effective diabetes management. Reduced physical activity due to persistent rainfall, missed walks, and a greater tendency to indulge in fried, calorie-dense comfort foods can contribute to poor glycaemic control. Prolonged exposure to damp conditions, particularly from wearing wet or closed footwear for extended periods, also increases the risk of fungal infections and delayed wound healing—complications that people with diabetes are already more susceptible to. While these changes may appear routine, together they can make diabetes significantly more difficult to manage during the rainy season.

Seasonal changes equally influence hypertension, although the effects are often less obvious. Variations in temperature and atmospheric pressure can cause blood vessels to constrict or relax, leading to fluctuations in blood pressure. Dietary habits also tend to shift during the rainy season, with increased consumption of salty snacks, pickles, and processed foods, which contribute to sodium overload and fluid retention. Because hypertension frequently remains symptomless, many people assume they are doing well despite missing medicines or delaying routine blood pressure checks. Unfortunately, uncontrolled blood pressure often comes to light only after a serious complication such as a stroke, heart attack, or acute cardiac event.

By Dr. Manjeeta Nath Das, Associate Director – Internal Medicine, PB Health

A cough that lingers for weeks is often dismissed as a stubborn cold, allergy, or lung infection. However, ENT specialists warned that in some cases, the real cause may be acid reflux, a condition that can affect the throat even without the typical symptom of heartburn.

Doctors told HealthandMe that recognizing the signs early can help patients receive the right treatment and prevent long-term complications.

When Does Acid Reflux Trigger a Chronic Cough?

According to Dr. Nishit Shah, ENT/Otorhinolaryngologist at Bombay Hospital, acid reflux, also known as gastroesophageal reflux disease (GERD), does not always present with chest burning.

"Sometimes people with reflux do not feel the usual symptom of heartburn in their chest. Instead, the acid from their stomach goes up into their throat, irritates it, which can cause a dry cough that will not go away, a hoarse voice, or a feeling that something is stuck in their throat," Dr. Shah told HealthandMe.

He advised that if a cough lasts for more than eight weeks and does not improve with usual medicines, acid reflux should be considered as a possible cause.

"It is very important to know what is causing your cough because if you just treat the cough, the acid reflux can still be hurting your throat," Dr. Shah said.

Not Every Throat Symptom Is Acidity

Also read: 'Let's Fix Our Food': India Launches New Policy To Fight Childhood Obesity, Boost Nutrition

However, not every throat symptom should be dismissed as acidity.

Dr. Alok Aggarwal, Chairperson, ENT, Sir Ganga Ram Hospital, said silent reflux often presents as intermittent throat irritation, a sensation of something stuck in the throat, or occasional voice changes.

"These symptoms are often judged as acidity by the common man, and people start self-medicating with antacids and even ayurvedic medicines. Less do they know that this can be a symptom of some underlying ENT disease," he said.

He explained that laryngopharyngeal reflux disease (LPRD) occurs when food or semi-digested food enters the pharynx, irritating its lining.

"It causes symptoms such as throat irritation, burning sensation, pain in throat, nasal irritation, globus sensation and change in voice," Dr. Aggarwal told HealthandMe.

ENT Evaluation Is Essential

Read More: Japanese PM Sanae Takaichi Sleeps 3 Hours A Night: How Much Sleep Do You Really Need?

While LPRD is commonly diagnosed, Dr. Aggarwal cautioned that similar symptoms may also be caused by allergic rhino-pharyngitis, chronic rhino-sinusitis, vocal nodules or polyps, laryngeal leukoplakia, and candida infection.

"Though this comes as the most common diagnosis in clinical practice, it often overshadows some very serious conditions which mimic the symptoms, and only after a thorough ENT examination can the exact diagnosis be made," he said.

He added that these conditions can be effectively diagnosed through thorough history-taking, clinical examination, and endoscopic examination.

"As doctors, we need to educate our patients regarding the disease physiology and the differentials it carries before establishing any diagnosis. A timely and adequate intervention with planned treatment can effectively cure the patient in most cases," Dr. Aggarwal said.

Lifestyle Changes May Help Control Symptoms

Dr. Shah recommended avoiding heavy meals, especially at night, limiting fatty foods, maintaining a healthy weight, and sleeping with the head elevated to help manage acid reflux.

"If people know that acid reflux can cause a cough, they can get a diagnosis sooner, get the right treatment and finally feel better," he added.

Dr. Aggarwal stressed the importance of timely medical evaluation.

"Early diagnosis and treatment can avoid unnecessary medications and avoid missing out on serious complications. A stitch in time saves nine," he said.

Japanese Prime Minister Sanae Takaichi has sparked debate after revealing that she gets very little sleep since taking office.

In a post on X, Takaichi wrote that she had managed to get "five full hours of sleep for the first time in ages"—an improvement from her usual "zero to three hours" a night since becoming prime minister.'.

"On weekdays, by the time I get back to the residence, I'm maxed out on private time just handling bath cleaning, bathing, dinner, washing up afterward, laundry, and some light tidying," she wrote.

"So the late-night hours after that get consumed until dawn with reading materials brought back from the Prime Minister's Office or prepping for … question time."

Takaichi added that whatever free time remained was spent ironing handkerchiefs, catching up on laundry, and repairing clothes.

While the disclosure offered a rare glimpse into the pressures of Japan's highest office, it also sparked a nationwide debate about the health risks of chronic sleep deprivation.

"I think she should rest more," Democratic Party for the People leader Yuichiro Tamaki said at a news conference.

"Why doesn't her entourage provide more support to create an environment in which she can make important decisions with a fresh mind?"

However, some of Takaichi's colleagues defended her.

"Each person has their own various circumstances and behind-the-scenes stories, and on the premise of fulfilling responsibilities in public duties, I would be grateful if you could understand," Deputy Foreign Affairs Minister Ayano Kunimitsu wrote on X.

Also read: Could Poor Sleep Be One of the Earliest Signs of Alzheimer's Disease? Study Says Yes

How Much Sleep Do You Really Need?

Dr. Nitin Dange, Comprehensive Stroke and Endovascular Neurosurgeon at Lilavati Hospital and Research Centre, Mumbai, told HealthandMe that regularly missing sleep can increase the risk of neurological problems over time.

"Currently, due to hectic schedules, people are now sacrificing sleep to meet work deadlines, study longer, or spend more time on screens. Missing a few hours of sleep once in 2-3 months is harmless.

However, chronic sleep deprivation can not only cause irritation and weight gain but also neurological issues. During sleep, the brain processes memories, repairs nerve cells, regulates emotions, and clears waste products that accumulate throughout the day," Dr. Dange said.

A recent research, published in the journal Alzheimer's & Dementia, suggests that disruptions in rapid eye movement (REM) sleep, during which we dream, consolidate memory, and process emotions, could be among the earliest biological signs of Alzheimer's disease.

Dr. Priyam Bordoloi, an Internal Medicine Resident from Assam, also highlighted the dangers of sleeping less than six hours a night.

"When you hit deep sleep, your brain's glymphatic system activates. Think of it as a plumbing system that actively flushes out metabolic waste and neurotoxic proteins (like beta-amyloid) accumulated during the day. When you consistently sleep less than 6 hours, you cut this vital cleaning cycle short. The toxins build up. If you do not fix this, you are actively fast-tracking your risk for Alzheimer's, Parkinson's, stroke etc. It's a bad habit we all need to fix," he wrote on X.

Tips To Sleep Better

Experts recommend getting 7-9 hours of sleep every night for optimal brain health.

• Maintain a consistent sleep and wake-up schedule.
• Avoid screens, caffeine, and heavy meals before bedtime.
• Exercise regularly, but avoid intense workouts late at night.
• Keep your bedroom quiet, cool, and dark.
• Consult a doctor if you snore loudly, stop breathing during sleep, or feel excessively sleepy during the day.