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.

Recent photographs of former US President Donald Trump with the UK’s King Charles III have drawn attention after visible discoloration was observed on his left hand, raising fresh questions about his health.

While Trump’s right hand has appeared discolored in earlier public appearances—a concern previously downplayed by both the former president and the White House—the latest images show similar changes on his left hand as well.

“Trump's right hand has been in bad shape for a long time now, but this picture taken today shows discoloration on the back of his left hand," independent journalist Aaron Rupar wrote on social media platform X.

Speaking to HealthandMe, Dr. Amit Prakash Singh, Consultant - Internal Medicine at the CK Birla Hospital, Delhi, explained the possible underlying causes that can result in hand discoloration. He noted that the condition may be due to:

• Bruising (bleeding under the skin)

This appears as blue, purple, or black patches. It may occur due to minor trauma or sometimes even spontaneously. The use of blood thinners or antiplatelet agents like aspirin can increase the likelihood of bruising. With age, blood vessels become more fragile, making bruising more common.

• Low oxygen or poor circulation

• Swelling (fluid buildup in tissues)

• Infection or inflammation

Dr. Singh advised people "to be concerned if there is sudden swelling in one hand, severe pain or tightness, persistent blue or black discoloration, breathlessness, fever with redness and warmth, or numbness and weakness".

"A purple or blue patch often suggests bruising, blue fingers may indicate circulation or oxygen issues, puffy hands suggest fluid retention, and red, hot swelling points toward infection," the expert said.

However, there is no official medical update on the discoloration in Trump's left hand. Therefore, any claims remain speculative. But it is not the first time that various speculations have been going around about the health of Trump.

Also read: Heat Stroke or Heat Exhaustion? AIIMS Doctor Explains Key Symptoms, How To Prevent

In an interview with The Wall Street Journal, in January this year, the US President informed that he takes aspirin doses more than his doctors recommend, and that is the reason for the bruising seen on his right hand. He has repeatedly said that his health is in "excellent" condition.

In the interview, he said, "They say aspirin is good for thinning out the blood, and I don't want thick blood pouring through my heart."

Trump, now 70, was diagnosed with chronic venous insufficiency, a condition that occurs when veins have trouble moving blood back to the heart. He also showed signs of bruising on his hand, which many attributed to frequent handshaking and to the use of aspirin.

Aspirin may still be considered for some people under 60 or 70 who have a higher risk of heart disease, but this decision should be made carefully. Factors like high blood pressure, high cholesterol, diabetes, smoking history, or a strong family history can influence whether aspirin makes sense for an individual.

With temperatures rising sharply, experts at the All India Institute of Medical Sciences (AIIMS) have warned that young children are significantly more vulnerable to heat stress than adults, urging parents to take preventive measures and recognize early warning signs.

Despite morning showers offering some relief, the national capital still recorded temperatures close to 40°C.

How Extreme Heat Affects Young Kids

Shefali Gulati, Professor, Department of Pediatric Neurology at AIIMS, highlighted that children are predisposed to both heat and cold stress and also tend to get dehydrated more quickly. She noted that global temperatures have been rising over the past few decades, and cited 2020 data from UNICEF, which showed that 76 per cent of children under 18 in South Asia—around 460 million—are exposed to extremely high temperatures, with 83 or more days in a year exceeding 35°C.

Dr. Gulati explained that young children often exhibit early behavioral changes when affected by heat. These can include irritability,

• reluctance to engage in outdoor activities,
• restlessness,
• excessive sweating,
• uneasiness,
• weakness.

She added that heat exposure, when combined with air pollution, can worsen health conditions, particularly in children with lung diseases and asthma.

“Heat can affect all parts of the human body. It begins with irritability and can progress to exhaustion,” she said.

In more severe cases, heat stress may lead to brain exhaustion, loss of consciousness, seizures, dehydration, and electrolyte imbalance.

Dr. Gulati further explained that the human body maintains its core temperature through physiological mechanisms, but these are less efficient in young children. During dehydration, increased blood flow to the skin reduces supply to vital organs like the brain. In patients with pre-existing kidney issues, this can result in acute or chronic injury.

Children with conditions such as cerebral palsy and other neurological disorders may also experience worsening symptoms due to heat exposure.

Further, dehydration can additionally strain the cardiovascular system, thickening blood and leading to tachycardia, thereby affecting cardiac function.

Beyond children, pregnant women exposed to extreme heat may face risks such as preterm birth, neurodevelopmental problems, and cognitive issues in newborns.

Dr Gulati emphasized the importance of fluids, Oral Rehydration Solution (ORS), and small, frequent meals, along with reduced outdoor activity. Preventive measures include wearing loose clothing, avoiding direct sun exposure, and limiting outdoor activities during peak heat hours.

The Importance of Diet: Avoiding Sugary Drinks

Also read: Heat Stroke or Heat Exhaustion? AIIMS Doctor Explains Key Symptoms, How To Prevent

Parmeet Kaur, Chief Dietitian at AIIMS reiterated the importance of proper hydration, food safety, and dietary habits during extreme heat, warning that both children and adults face increased risk of dehydration and related complications.

“One has to avoid consuming extra sugary and salty foods, drinks, and snacks, because if one is consuming highly processed drinks or snacks loaded with sodium and sugar, it may lead to dehydration,” Kaur said.

"Hydration is key, and one should not wait to feel thirsty," she added, stressing the need to consume home-made and simple food.

For immediate management, homemade Oral Rehydration Solution (ORS) can be used, prepared with six teaspoons of sugar and half a teaspoon of salt in one liter of water.

However, she cautioned "against sugary drinks and packaged snacks like chips, explaining that high sugar and sodium content can worsen dehydration while giving a false sense of energy. While these products may create the impression of quick rehydration or an instant energy boost, they can instead contribute to greater fluid loss and increase the risk of severe dehydration.”

Instead, the expert recommended traditional cooling options such as bael sharbat, lassi, sattu, and gond katira. Ingredients like coriander, mint and onion were also suggested as part of summer dietary practices.

The dietician advised small, frequent meals that are easy to digest, including roasted and unsalted chana or peanuts, while avoiding heavy meals.

Food safety is another major concern during the summer. High temperatures increase the risk of microbial growth in stale or improperly stored food.

Kaur warned to "not consume food left at room temperature for more than two hours", as it can lead to microbiological growth. Sprouts were also flagged as potentially risky in hot weather.

Further, the expert also urged for "high heat cooking method with vegetarian food to be cooked at around 70°C, while non-vegetarian items require temperatures between 70°C and 80°C".

The expert reiterated the need to

• maintain hydration levels of approximately 2.5 to 3 liters per day.
• ensure electrolyte balance,
• take preventive action before body temperature rises.

Even as heatwave conditions continue to intensify across parts of the country, cases of heat-related illnesses are on the rise, leaving many confused between heat stroke and heat exhaustion.

While both are caused by prolonged exposure to high temperatures, their severity, warning signs, and management can differ significantly.

Speaking to HealthandMe, Dr. Naval Vikram, Professor, Department of Medicine, at the AII India Institute of Medical Sciences (AIIMS), explained the key symptoms to watch out for, how to tell the difference between the two conditions, and the simple yet crucial steps individuals can take to protect themselves during extreme heat.

“The general features of a patient with heat stroke are: first, his or her body temperature will be very high. It will not be around normal levels like 104, 105, or 106—it will be significantly elevated. Second, the person may be delirious, confused, or even in a state of unconsciousness or coma. The breathing will also be labored. These are the features of heat stroke,” Dr Vikram said.

On the other hand, a person with heat exhaustion remains conscious, but looks and feels very tired. The individual is also likely to experience

• body ache,
• muscle pain,
• headache,
• muscle cramp,
• body pain or fatigue.

"If this has happened after exposure to heat, it is similar to the feeling one gets after jogging, running, or playing for about half an hour and then feeling exhausted. If that same feeling occurs without doing any such activity, then it is a stage of heat exhaustion, because it is happening due to the heat,” Dr Vikram told HealthandMe.

Who Is More At Risk With Heat-related Problems?

The most vulnerable category for heat-related problems is the extremes of age—the younger children and older adults.

The expert noted that younger children may not be able to express their symptoms completely. They may not be able to tell you exactly what they are feeling.

At the other end, older adults often have multiple health issues—neurological conditions, diabetes, hypertension, and kidney problems.

"So multiple organs may already be affected to some extent. In such situations, if heat-related illness occurs, it becomes difficult to diagnose, especially if they already have neurological problems like confusion or altered behavior," Dr Vikram said.

With existing comorbidities, other organs may already be compromised, so the tipping point towards severity happens very quickly. In contrast, younger individuals generally have greater body reserves.

Therefore, people at the extremes of age are more vulnerable, also because it can sometimes be difficult to recognize and diagnose the condition in them.

How Can One Prevent?

While it may be impossible to avoid rising temperatures, the focus should be on how much you can protect yourself. The expert suggested measures such as:

• Try to avoid exposure to extreme heat as much as possible.

• In case of being exposed, make sure to cover yourself—cover your head and upper body, use an umbrella, stay hydrated, and take breaks in between.

• If you have to work in a hot environment for a couple of hours, take a break in a cooler or temperature-controlled environment for at least half an hour before resuming, rather than continuously working in the heat. These steps can help prevent heat-related problems.

• If symptoms do occur, and it is heat exhaustion, take rest and avoid further activity for some time.

• In more severe cases—if someone shows symptoms like loss of consciousness or very high body temperature—they should be taken to a hospital immediately. Do not try to manage such cases at home.”