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.

Heart failure has quietly emerged as one of India’s most serious and underestimated health challenges, driven by a rise in hypertension, diabetes, obesity, and delayed diagnosis of heart disease.

Due to a shortage of donor organs and a long waiting period before receiving the right treatment, end-stage heart failure patients in India faced a lot of difficulties a few years ago.

Today, advancements in heart transplant techniques are changing the situation from what was once an untreatable condition to a second chance at life.

Data from the National Organ and Tissue Transplant Organization (NOTTO) shows a significant year-on-year rise in heart transplants, with 253 transplants done in 2024, showcasing improved organ donation awareness, better coordination between hospitals, and stronger transplant networks.

What was once considered the only option is now emerging as a life-saving solution, offering patients not just a second chance but a return to a more meaningful and active life.

Why Are Heart Transplants Needed?

A heart transplant offers hope and gives a second life to patients whose hearts no longer support the body even after the best available medical aid.

Although it is never performed instantly, it becomes necessary whenever conditions of the heart result in end-stage heart failure, where the pumping function of the heart is compromised.

Also read: Harish Rana’s Family Donated His Heart Valves And Corneas After His Death From Passive Euthanasia

When medications and modern technologies cannot supply an adequate amount of blood and oxygen to the organs, patients experience extreme breathlessness, fluid buildup, fatigue, and repeated hospitalizations, making even simple activities like walking, eating, or lying flat exhausting.

As the flow of blood continues to deteriorate, failure is also expected in other vital organs such as the kidneys and liver. It is at this point that the transplantation of the donor heart is considered the only treatment option to ensure that the blood flow is normalized.

How Heart Transplantation Transforms Life?

Heart transplant is not just a surgical replacement of a failing organ, but a complete life restoration for patients with end-stage heart failure.

Its benefits include:

• Normalizes Heart Functioning: A healthy donor heart can immediately restore normal and effective blood flow. This will reduce weakness and fatigue that makes carrying out everyday tasks rather difficult.
• Enhances Survival Rates: Patients diagnosed with end-stage heart failure can only experience the best post-transplant survival outcomes when they undergo the transplant procedure as compared to other medical treatments.
• Enhances Quality of Life: The patients are able to attain independence once again as they are able to walk, sleep, travel, and socialize with their families and friends.
• Prevents Frequent Hospitalization: The successful transplant procedure prevents constant hospitalization, especially in cases with deteriorating heart failure, infections, and organ dysfunction.
• Protects Other Vital Organs: By restoring adequate blood flow, heart transplantation helps reverse damage to the kidneys, liver, and lungs caused by prolonged heart failure
• Permits Return to Normal Roles and Responsibilities: Patients regain their ability to work, take care of others, and carry out their daily responsibilities, which helps their emotional well-being.

Scottish Olympic legend Liz McColgan has warned athletes to wear sun protection during their training hours to protect their skin from “lasting consequences”.

Liz McColgan shared the health warning to athletes after undergoing surgery to remove lesions on her face.

The Olympic silver medalist from Dundee shared post-surgery photographs on the social media platform Instagram and lamented that, as a young runner, she never focused on wearing sun protection.

Avoiding sun cream because she felt it made her "sweat more" was her “ignorance”, said the 61-year-old former athlete.

“As a young athlete, I trained and raced in all weathers. Sun protection was never something I gave much thought to. In fact, I avoided it. I didn’t like the feeling of creams on my skin - I thought they made me sweat more, so I convinced myself I was better off without them. Looking back, that was ignorance,” Liz McColgan said.

“Recently, I had to undergo surgery to remove two lesions on my face. It was a stark reminder that the choices we make early on - especially the ones we dismiss as unimportant - can have lasting consequences,” she added.

Liz McColgan noted that athletes keep all their focus on "performance - mileage, sessions, recovery, nutrition”, but simple things like protecting their skin are often ignored.

“Yet it’s just as much a part of our overall health and wellbeing as any training session,” she said.

Sharing the health message to both young and old athletes, McColgan said, “Take sun protection seriously. Whether you’re training, racing, or even just spending time outdoors, protecting your skin matters.”

McColgan won a silver medal in the same event at the 1988 Olympic Games in Seoul. In 1991, she went on to win the 10,000m World Championships title in Tokyo.

Also read:5 Simple Do's And Don'ts For Healthy Skin

Why Sunscreen Is Essential

Using sunscreen protects the skin from harmful ultraviolet (UV) radiation, which causes

• skin cancer,
• premature aging,
• painful sunburns.

Should Sunscreen Be Used Indoors Too?

Sunscreen is meant to be part of a daily skincare routine. But most people reach for sunscreen when heading to the beach or stepping out for a long day in the sun.

According to dermatologists, sunlight can still reach you indoors.

Dr Khushboo Jha, Chief Dermatologist Consultant at Metro Hospital, explains that sunlight entering through windows can still affect the skin.

“While standard window glass blocks most UVB rays, which cause sunburn, UVA rays can still pass through. These rays penetrate deeper into the skin and are linked to long-term concerns such as premature aging, uneven pigmentation, and loss of skin elasticity,” she said.

These UVA rays are often overlooked because they do not cause immediate redness or burning like UVB rays. However, over time, they can lead to visible signs of skin aging and pigmentation.

Also read: Why Should You Must Apply Sunscreen Inside A Plane?

A Practical Approach To Daily Skincare

Dermatologists suggest viewing sunscreen as a preventive skincare habit rather than a rigid rule.

Dr Jha recommends incorporating sunscreen into your morning routine, particularly if your day includes stepping outdoors or spending time in naturally lit environments.

In simple terms, if daylight reaches your workspace or you plan to go outside later in the day, applying sunscreen in the morning is a small step that can help protect your skin over time.

Many men believe that as long as they feel healthy, active, and free from major illness, their fertility remains intact. While men do not have a sudden fertility cut-off like women, age still plays an important role when it comes to male fertility. Currently, a large number of men wish to start families later in life, often thinking their good health guarantees easy conception and fatherhood. They often neglect the age factor, even though it is linked to hormonal imbalance, stress, and genetic issues. A large number of men are unaware of their fertility health and continue to suffer. However, even in the absence of visible health problems, older men may face unexpected fertility challenges. Dr Madhukar J Shinde, Fertility Specialist at Nova IVF Fertility, PCMC, Pune, answered this for Health and Me.

Read more: The Overlooked Role of Men in IVF: Why Their Silent Strength Is Key to Fertility Success

Why do older men struggle with infertility?

Decline in sperm quality: Various studies have confirmed that as men age, sperm count, movement, and shape can slowly decline. Even if the numbers appear normal, DNA damage in sperm increases with age, which can reduce the chances of successful fertilisation.

1. Hormonal imbalance: It is important to note that testosterone levels naturally decrease over time. Lower testosterone can affect sperm production, sexual function, and overall reproductive performance, even when a man feels physically fit.
2. Some medical conditions tend to take a toll on fertility: Conditions such as diabetes, high blood pressure, and thyroid disorders become more common with age. These may be well-managed and symptom-free, but can still affect sperm health and fertility.
3. Stress and other lifestyle factors can impact fertility: Chronic stress, lack of sleep, smoking, alcohol consumption, or exposure to pollution can take a toll on sperm quality and lead to fertility issues that can be worrisome for men. Preservatives in a lot of frozen and junk food not only contribute to poor fertility health, but research suggests they may also affect DNA function. Therefore, men should stay vigilant.
4. Genetic issues: Advanced paternal age is associated with a higher risk of genetic mutations in sperm. This can further affect embryo development and increase the risk of miscarriage or certain developmental conditions.

Men must stay in touch with a fertility consultant who can design an appropriate treatment plan. The expert will evaluate them thoroughly and suggest lifestyle modifications such as a well-balanced diet, exercise, stress management through meditation, and medication for conditions such as diabetes, hypertension, and cholesterol. Awareness helps men take informed steps towards parenthood, even later in life. Certain pre-medications, including antioxidants advised by a fertility consultant, may significantly help in reducing DNA fragmentation, which contributes to poor sperm function. Therefore, men should prioritise their reproductive health, stay informed, and not suffer in silence.