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.

World Zoonoses Day is being observed today amid growing concerns over the rising threat of zoonotic diseases such as Ebola, Marburg and Nipah. More than 60% of human pathogens are zoonotic, while nearly 75% of emerging infectious diseases originate in animals.

According to the International Society for Infectious Diseases (ISID), spillover events—where pathogens jump from animals to humans—have tripled since the 1980s, fueled by deforestation, wildlife trade, industrial farming and climate change.

In an interview with HealthandMe, Dr Nivedita Gupta, Scientist and Head of the Communicable Diseases Division at the Indian Council of Medical Research (ICMR), outlined the key measures policymakers should prioritize to reduce the risk of future pandemics and strengthen global health security.

Dr Gupta stressed that preventing the next pandemic requires a proactive approach built on integrated surveillance, coordinated data sharing, community participation and stronger indigenous research and development.

Strengthening Surveillance

According to Dr Gupta, the first priority should be strengthening surveillance across all sectors—across humans, animals and the environment.

"I think first part is that surveillance should be strengthened in all domains, whether it is human surveillance, animal surveillance, wildlife surveillance, as well as environmental surveillance. So, we really need to do integrated surveillance and strengthen all aspects."

She said early detection is critical to identifying emerging pathogens before they become larger public health threats.

"Unless we are able to detect what is happening at various interfaces, we will never come to know that a certain pathogen or a disease is emerging."

Also read: World Zoonoses Day 2026: Next Pandemic Very Likely, And The World Is Still Underprepared, Says WHO Scientist

Human And Animal Health Data

The second major priority, she said, is ensuring that surveillance data across sectors is connected.

"If I'm seeing unusual bird or animal deaths, if I'm sitting in human sector, I should also know about it and I should be able to act very timely to understand whether there are any implications on humans and vice versa."

Dr Gupta said data from human, animal and wildlife surveillance systems should "talk to each other" to detect zoonotic diseases at an early stage.

She also highlighted the importance of recognizing reverse zoonosis.

"It's not only that we get infections from animals, birds, and wildlife, but animals also get infected from humans. So, that is known as reverse zoonosis. So, it is both ways."

According to her, anything occurring in the human sector should raise equal alarm in the non-human sectors, and vice versa.

Communities Should Become 'Eyes And Ears'

Also read: Natural Origin or Lab Leak? Gabbard Reignites COVID Origins Debate, Claims Fauci Funded Wuhan Lab Research

Dr Gupta said community participation is another critical pillar of pandemic preparedness.

"I think we really need massive community sensitization. And community should be our eyes and ears because there are many people who live in remote areas, who live in forest fringes, and they might be seeing many unusual things happening like sudden deaths among animals, carcasses."

She noted that there is currently no system to help people recognize unusual events or report them to the authorities.

"I think those systems wherein our community can be our eyes and ears is something that we really need to develop in our country so that any unusual occurrence which happens within domestic animals or forest fringes or in birds or poultry farms can be immediately reported to the relevant authorities and a timely action can be taken."

Strengthen Indigenous R&D

Dr Gupta also stressed the need to strengthen the research ecosystem and also work in collaboration with the industry. She said academia and industry currently work in separate silos, making it difficult to rapidly translate research into products.

It is important "to align academia and industry so that industry gets ready-made products which align with the priorities of the country."

The expert added that stronger industry-academia partnerships would help develop products that serve national priorities.

What Can Individuals Do?

On the role of citizens, Dr Gupta said individuals can contribute by reporting unusual events involving animals or wildlife.

"If I see any unusual thing happening in my domestic settings or around me or if I'm a person residing at forest fringes or in bird sanctuaries, I see unusual deaths, I should be able to report them."

However, she pointed out that governments must first establish a reporting mechanism. "So, currently, even if I want to report today, I don't know where to go."

She said people need to be informed about what constitutes an unusual event and how to report it.

"I think that community sensitization telling them what is unusual, what has to be taken up with a pinch of salt, what has to be reported to the authorities really needs to be told to the people of the country so that they start reporting and they become our sentinels."

Mumbaikars are currently being forced to wade through waterlogged streets, as the city has been receiving heavy rainfall for the last few days.

Floodwater often gets mixed with harmful contaminants like animal waste, animal feces, waste from human settlements, industrial pollutants, and harmful microorganisms, which can lead to serious monsoon infections.

Also Read: Vagus Nerve Implant Shows Promise for Lasting Relief in Treatment-Resistant Depression: Study

Here’s how one can stay safe after getting exposed to floodwater:

Precautionary Measures After Walking Through Floodwater

HealthandMe spoke to Dr. Murtaza S Bagwala, Head of Emergency Medical Services, Saifee Hospital, Mumbai, about how to keep infections at bay after coming in contact with filthy floodwater.

Pay Close Attention To Your Feet And Legs, Even If They Don't Hurt

When you are in floodwater, there may be sharp objects like broken glass, nails, stones and metal debris around you. You are more likely to come in contact with these objects unintentionally.

Dr. Bagwala recommends, “Small cuts, blisters, or punctures may not be noticed but can lead to infection if bacteria get into the skin. If you see any injury, clean it well, brush on antiseptics and consult a doctor for advice if the wound is deep or dirty.”

Also read: World Zoonoses Day 2026: Monsoon Season And The Rise Of Zoonotic Diseases

Don't Overlook Body Aches Or Fever In The Following Days

As the risk of contracting infections is high during monsoon, do not neglect if you develop flu-like symptoms after coming in contact with contaminated floodwater. The expert warns against dangerous monsoon infections like leptospirosis.

He says, “After contact with water contaminated with the urine of an infected animal (usually a rodent), the early symptoms of leptospirosis may include fever, severe muscle pain, headache, vomiting, chills, or redness of the eyes. The symptoms are very similar to those of a viral disease, so prompt medical evaluation is crucial to avoid complications, such as kidney, liver, or lung involvement.”

Don't Ignore Skin Changes

The doctor also says that if your skin’s colour or texture changes after getting exposed to floodwater, do not ignore it. He says that if the area around the feet or legs becomes red, swollen, painful, warm, discharges pus or the itching persists, it should be treated immediately.

These can be signs of bacterial or fungal infections that need to be treated, especially in individuals with diabetes, poor blood flow, or impaired immune function.

Also read: Leptospirosis In Monsoon: Expert Explains Why Early Detection & Prevention Is A Must

Determine If Your Tetanus Shots Are Updated

As you can get cuts and bruises after walking through floodwater, it is important to stay on top of your tetanus shots.

The expert advises, “Seek health care advice if you have a cut or puncture wound, particularly from a sharp object that was submerged in the water, while walking through the water. Early management of wounds can help avoid complications."

Take Precautions When Eating Or Drinking After Exposure

You are also at risk of contracting gastrointestinal infections after coming in contact with floodwater. Contaminated water may enter your mouth and lead to stomach and intestinal infections or may contact food and lead to food poisoning.

Prevent diarrhoea, vomiting and dehydration by drinking only clean, safe water, eating only freshly prepared food and practicing good hand hygiene before eating.

India has approximately 101 million people living with diabetes, one of the largest such populations in the world. Blood sugar levels, HbA1c targets, and medication compliance tend to dominate the clinical conversation around the condition. What receives considerably less attention, from both doctors and patients, is what diabetes does to the feet, and what the consequences of that neglect look like over time.

How Diabetic Foot Ulcers Develop

Diabetic foot ulcers develop when nerve damage caused by prolonged high blood sugar, referred to as diabetic neuropathy, reduces sensation in the feet. A small cut, blister, or pressure sore that a person without neuropathy would notice and address goes unfelt. In the absence of pain as a warning signal, the injury progresses. Infection sets in. By the time the patient presents for medical attention, the wound has often reached a stage where conservative management is no longer sufficient.

The High Cost of Delayed Treatment

The clinical outcomes associated with delayed presentation are sobering. A 2024 study published in Diabetes and Metabolic Syndrome, drawing on real-world data from a tertiary care facility in India, found that amputation was required in 43.4 percent of diabetic foot ulcer patients. Ten-year mortality among those who underwent amputation reached 30.9 percent, compared to 24.5 percent among those who achieved primary healing.

A 2025 cross-sectional study published in Cureus found a significant disparity in mortality rates between individuals with diabetic foot ulcers and those with diabetes alone, at 231 deaths per 1,000 person-years compared to 182. Globally, 18.6 million individuals develop diabetic foot ulcers annually.

Prevention Requires Daily Foot Care

The gap between the clinical evidence on diabetic foot complications and the attention the condition receives in routine diabetes management is where the preventable harm accumulates. Most patients presenting with advanced diabetic foot disease describe a history of minor symptoms that were attributed to something else, ignored, or left unaddressed because they were painless.

Regular foot inspection, appropriate footwear, avoidance of barefoot walking, and early medical review of even minor foot injuries are the practices that interrupt this progression before it reaches the point of irreversibility. Dedicated foot care clinics are built around exactly this philosophy, bringing together the multidisciplinary expertise needed to catch complications early and treat them before the window for limb salvage closes.

Why Multidisciplinary Care Matters

Eastern India carries a significant share of this burden, with patients across West Bengal, Bihar, Odisha, Jharkhand, and the Northeast frequently facing limited access to the multidisciplinary care that diabetic foot management requires. Diabetologists, vascular specialists, wound care experts, reconstructive surgeons, and rehabilitation teams working in coordination produce outcomes that sequential, single-specialty care cannot consistently achieve. Where such integrated care is available and accessed early, limb salvage rates improve, and amputations are reduced.

The Ministry of Health and Family Welfare’s recent advisory on diabetic foot care reinforces that foot health in diabetes management warrants systematic attention, not as an afterthought to glycemic control, but alongside it.

(Dr. Anupam Golash, Consultant - Plastic Reconstructive Surgery, CK Birla Hospitals, CMRI)