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.

AIIMS New Delhi has successfully performed its second dual kidney transplant using organs from a marginal donor. The procedure highlighted a strategy that could help make greater use of kidneys that may otherwise be rejected for transplantation.

The procedure was carried out on July 28 by a multidisciplinary team from the Departments of Surgical Disciplines, Nephrology, Anaesthesia, Transplant Immunology and the Organ Retrieval Banking Organisation (ORBO).

The donor was a 70-year-old woman from Command Hospital, Chandimandir, Chandigarh. Because of her advanced age and the marginal characteristics of the donated kidneys, doctors transplanted both kidneys into a single 56-year-old woman.

The organs were transported from Chandigarh to New Delhi by an Army helicopter. According to AIIMS, despite a cold ischaemia time of 12 hours, both kidneys were functioning immediately after transplantation.

The recipient showed no complications after the transplantation and was discharged after 10 days with normal kidney function.

What Is A Dual Kidney Transplant?

In a conventional kidney transplant, one donated kidney is transplanted into a recipient. Meanwhile, in a dual kidney transplant both kidneys are placed into one patient from the same deceased donor.

The approach is considered when the donor is older or the kidneys have characteristics that suggest that a single kidney may not provide sufficient function.

In simple terms, two kidneys that have lower individual functional capacity may be able to provide adequate overall kidney function when transplanted together.

Research has previously found that dual kidney transplantation can be a viable option for kidneys from older or marginal donors. Transplant teams carefully assess the donor organs and recipient before deciding whether using both kidneys together could provide adequate renal function.

A 2025 analysis comparing single and dual transplantation from marginal donors also highlighted the potential of using kidneys from a deceased donor.

Also read: The Hidden Cost Of Self-Medicating UTIs. How Antibiotic Misuse Is Fueling Resistance

Need Of The Hour

The milestone comes as India faces shortage of transplantable organs. India recorded 20,138 organ transplants in 2025, crossing the 20,000 mark for the first time, but the number of patients needing transplants remains far higher than the available organs.

Recent reports has also highlight the country's mounting transplant needs that still remain unmet despite its position as one of the world's largest transplant centres by volume.

This makes the ability to safely use organs from older or marginal donors particularly important.

“Dual kidney transplantation from carefully selected marginal donors represents an important strategy for increasing the utilization of deceased-donor organs,” AIIMS said in the press release.

AIIMS said the successful transplant demonstrates its efforts to “maximize the utilization of marginal donor organs” and help patients with end-stage kidney disease receive organs at the earliest.

Also read: US HHS Action Against Kentucky Organ Donation Group Raises Questions About Transplant Safety

Encouraging Development

The immediate functioning of both kidneys despite around 12 hours of cold storage is certainly encouraging. However, the patient’s discharge with normal kidney function represents an early outcome.

Longer follow-up will be needed to determine how well the transplanted kidneys perform over the months and years ahead.

The AIIMS team was led by Prof. Asuri Krishna, with support from the nephrology, anaesthesia, transplant immunology, ORBO and organ retrieval teams.

It is a common belief that metabolic dysfunction-associated steatotic liver disease (MASLD)—formerly known as non-alcoholic fatty liver disease (NAFLD)—is primarily associated with diet, sedentary lifestyles, and obesity. However, there are other factors as well affecting this aspect. Post-menopausal women experience a significantly higher incidence and faster progression of fatty liver disease, even when maintaining a stable body weight.

Why Menopause Increases Fatty Liver Risk

In pre-menopausal women, oestrogen plays a central role in metabolism, by promoting healthy fat accumulation in subcutaneous tissue (below the skin) rather than around internal organs, it also increases insulin sensitivity and suppresses liver inflammation.

After menopause when oestrogen levels drop, this protective function is lost, there is redistribution of fat leading to more fat accumulation around internal organs including liver thus leading to increase chances of NAFLD and also increasing insulin resistance, needless to say that with age our metabolic rate also goes down which also plays a role in this.

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Early Detection Is Key

The important part lies not only in understanding above but to go further in early detection and prevention of menopause associated NAFLD. As we know that fatty liver is a silent disease and often does not causes any signs and symptoms till very advanced stage.

First and foremost is to change lifestyle with advancing age, changing both the dietary habits and physical activity. Regular screening and monitoring is warranted with blood tests, routine metabolic panels, keeping a tab on weight, sugar and cholesterol levels and a basic ultrasound of abdomen.

For someone already diagnosed with 2nd or 3rd stage fatty liver, a simple non-invasive. Fibroscan can help monitor and assess the response to treatment.

Also read: How Menopause Changes Heart Health Risks?

Understanding The Impact Of Menopause On Liver Health

Coming to treatment part of NAFLD in post-menopausal women, it being primary a lifestyle disease so the core of management also lies around managing lifestyle. Medicines are available for treating and controlling NAFLD in conjunction with lifestyle management.

Hormone replacement therapy (HRT), when initiated early in post-menopausal women for symptomatic relief may offer secondary benefits by maintaining metabolic health. However HRT should always be initiated after proper evaluation and expert guidance.

NAFLD is a silent epidemic and primarily a life style disease, knowing about it and knowing triggering and precipitating factors helps understanding and prevention better.

Menopause being a natural biological phenomenon in every female’s life, it becomes essential for us to know how it affects our liver health and overall health as well.

By Mr. Ankur Garg, Group Director Liver Transplant & GI Surgery, Paras Health, Gurgaon

Every year, as the monsoon rolls in, hospitals and clinics across India see a familiar pattern: a sharp uptick in children and elderly patients presenting with vomiting, diarrhoea, and dehydration.

Doctors attribute this seasonal surge to a combination of contaminated water supplies, deteriorating food hygiene, and warm, humid conditions that favour the spread of viruses like rotavirus and norovirus.

Why Monsoon Fuels Gut Infections

Heavy rains and flooding routinely compromise municipal water lines, allowing sewage to mix with drinking water. Street food and produce are more prone to contamination during this period, and the humidity itself accelerates bacterial and viral growth.

Acute gastroenteritis, an inflammation of the stomach and intestines, is consistently one of the fastest rising monsoon health conditions, with rotavirus being a leading cause in children and norovirus a common culprit across age groups.

Understanding Rotavirus

Rotavirus is a highly contagious, wheel shaped virus and remains the leading cause of severe diarrhoeal illness and death in children under five worldwide. It spreads through the faecal oral route via contaminated water, food, surfaces, or close contact with an infected person, and can cause several days of intense vomiting and watery diarrhoea, putting young children at real risk of rapid dehydration.

The good news: Rotavirus vaccines, given orally in a series of doses before 8 months of age, are highly effective at preventing severe disease and are recommended as part of national immunisation programmes.

Also read: Climate Change And Progressive Urbanization Call For An Integrated Approach To Infectious Disease Surveillance

Expert Recommended Prevention Measures

1. Water safety first

Boil or filter all drinking water during the monsoon months. Avoid ice and beverages of uncertain origin, especially from street vendors.

2. Food hygiene

Steer clear of cut fruits, chaat, and other street food that has been sitting exposed. Cook food thoroughly and eat it hot. Avoid reheated leftovers stored without refrigeration.

Also read: Dengue & Guillain-Barré Syndrome: Can A Common Monsoon Illness Trigger A Serious Nerve Disorder?

3. Hand hygiene

Frequent handwashing with soap before eating, after using the toilet, and after changing diapers remains one of the single most effective, low cost interventions against faecal oral transmission.

4. Vaccination

Ensure infants complete their full rotavirus vaccine schedule on time. Vaccination substantially reduces hospitalisations and severe outcomes, even though it does not eliminate all seasonal transmission.

5. Isolate and disinfect

Because these viruses spread easily within households and childcare settings, keep infected individuals' utensils and linens separate, and disinfect surfaces regularly during an active infection.

Recognising The Warning Signs

Most cases of viral gastroenteritis are self limiting, but caregivers should watch for signs of dehydration that require urgent medical attention:

• Sunken eyes, dry mouth, or reduced tears when crying (in infants)
• Little or no urination for 6+ hours
• Lethargy or unusual drowsiness
• Persistent vomiting that prevents fluid intake
• High fever or blood in the stool

Also read: Beware! Common Mistakes New Parents Make During Their Baby’s First Monsoon

Treatment: What Actually Helps

Oral Rehydration Solution (ORS) is the cornerstone of management.

A simple homemade version consists of 1 litre of boiled and cooled water, 6 teaspoons of sugar, and half a teaspoon of salt. It can be lifesaving when commercial ORS packets are not available, though pre mixed WHO formula ORS is preferable when accessible.

Zinc supplementation (around 20 mg daily for 10 to 14 days) is recommended for children under five, as it has been shown to reduce the duration and severity of diarrhoeal episodes.

Antibiotics are not effective against viral gastroenteritis and should only be used if a bacterial cause, such as cholera, is confirmed by a doctor. Inappropriate antibiotic use can do more harm than good.

Continue feeding. For breastfed infants, continue breastfeeding throughout the illness. For older children and adults, small, frequent sips of fluids and bland, easily digestible food are better tolerated than large meals.

When to See a Doctor

Seek medical care promptly if there is persistent high fever, visible blood in the stool or vomit, signs of moderate to severe dehydration, or if symptoms do not improve within 2 to 3 days, particularly in infants, the elderly, or anyone with underlying health conditions.

By Dr. Geeta Malkan Billa, Director of Gastroenterology & Hepatology at Dr. L. H. Hiranandani Hospital