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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.
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.
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.
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.
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.
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India is taking significant steps to enhance its vaccination strategy, with a special focus on adults, particularly those aged 55 and above, said Dr. N K Arora, Member of the National Technical Advisory Group on Immunisation in India (NTAGI), as part of the World Immunization Week.
NTAGI is the highest advisory body on immunization in the country, which consists of independent experts who provide recommendations on vaccines after reviewing data on disease burden, efficacy, and cost-effectiveness of vaccines.
In an exclusive interaction with HealthandMe, Dr. Arora shared that the country “is in the process of establishing priority pathogens and vaccines aimed at the adult population”.
This initiative will target those above the age of 55 or 60 to tackle infections that are particularly serious in older individuals, especially those living with chronic conditions like diabetes, hypertension, and cancer.
“The process has started. This year, we will be moving in that direction,” said Dr. Arora.
The expert lauded the introduction of the HPV vaccine for young girls. Dr. Arora highlighted the critical importance of this initiative, given India’s status as the country with the highest number of cervical cancer cases globally.
"Cervical cancer is preventable by the HPV vaccine, and we are now in the fortunate position of having a domestically manufactured vaccine," he explained.
The first round of vaccinations has already commenced, and Dr. Arora urged the media and public to dispel any misinformation surrounding the vaccine to ensure its success.
Further, the vaccine expert highlighted the potential introduction of an indigenous dengue vaccine, currently undergoing trials.
“The trials will take at least two and a half years, which means by the end of 28, we will have the results,” Dr. Arora said.
He emphasized the severity of dengue when it turns from a mild illness into a severe one, particularly among young adults.
The dengue vaccine, being developed indigenously, is expected to play a crucial role in protecting the 10-20 age group, who are most susceptible to severe dengue cases.
“We are waiting for the results of the trials, and once the vaccine is recommended by the NTAGI, the system will be ready to adopt it,” said Dr. Arora.
Dr. Arora stated that India, known as the pharmacy of the world, is playing a significant role in the global vaccine landscape.
“One feels very proud to be an Indian as every vaccine administered in India is made in India,” he said, noting that India also "provides two-thirds of the global vaccine supply".
This achievement positions India as a global leader in vaccine research and development, contributing substantially to global health initiatives.
"These initiatives are vital for the future of public health in India," Dr. Arora said.
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Amid rising cases of measles in neighboring countries, India is concerned, and steps are being taken to ward off any potential outbreaks in the nation, said Dr NK Arora, Chair of the National Verification Committee (NVC) for Measles-Rubella Elimination in India.
In an exclusive conversation with HealthandMe, the expert emphasized the growing concerns over the spread of measles, particularly following outbreaks in Myanmar and Bangladesh.
He noted that in the case of polio, India is free, and fortunately, neighbors like Nepal, Bangladesh, Bhutan, and even Myanmar are all polio-free.
“But measles is something which we are worried about,” Dr Arora said.
"We are aware of outbreaks in Myanmar, particularly among the Rohingya population, and the subsequent spread to Bangladesh, where there has been a large-scale outbreak with numerous fatalities," he added.
As per official data, Bangladesh has recorded 227 child deaths since March in one of its worst outbreaks of measles in decades, with the number of suspected cases reaching nearly 35,000, AFP reported.
Dr Arora pointed out that the porous borders India shares with Bangladesh make the risk of cross-border transmission higher, particularly given the large movement of people between the two countries.
To counter this, the expert mentioned that India has strengthened surveillance in states bordering Bangladesh, like Tripura, Manipur, and Meghalaya, but also admitted that more efforts are needed.
Meghalaya’s state health department have called for stepping up surveillance in East Khasi Hills District. Similarly, Health officials in Tripura are also assessing the prevailing measles and rubella situation, with a focus on vaccination coverage and containment measures. The health officials have stressed to strengthen surveillance, early detection, reporting, and response mechanisms.
Also read: Measles Again On The Rise Globally: Is India At Risk?
Notably, Nepal has also reported at least four outbreaks of the deadly viral disease —one in Sarlahi and three in Baglung—since the start of 2026.
"If even one case of measles comes in, it can spread quickly due to the virus's high reproductive or transmission dynamics. A single infected child can spread the virus to up to 12 to 18 others very quickly, which is extremely worrisome," he explained.
Dr. Arora stressed the importance of identifying suspected measles cases early, which he defined as any child with fever and rash.
"While these symptoms could indicate other diseases too, it's crucial to have a sensitive definition to quickly detect measles cases.
Once a suspect with fever and rash is identified, samples are promptly sent to the lab for confirmation, and immediate alerts are issued," he told HealthandMe.
Dr. Arora also addressed the ongoing efforts to eliminate measles and rubella in India, which have been bolstered by targeted interventions and public awareness campaigns.
Since the beginning of the year, India is seeing sporadic outbreaks of measles. Madhya Pradesh's Gwalior reported three outbreaks, and Morena six.
Over January and February 2026, 41 children were diagnosed with measles in Tikari village in Madhya Pradesh.
However, swift action by health authorities with proactive frontline engagement and data-driven rapid response prevented an escalation into large measles outbreaks.
"Our goal is to prevent any deaths from measles, which in today's time, should be entirely avoidable," said the Chair of the NVC.
Referring to increasing child deaths due to the highly infectious disease in Bangladesh, he said: "If a child dies from measles, it indicates a significant gap in the quality of care provided."
Further, Dr. Arora explained that measles complications such as severe pneumonia, sepsis, and meningitis are of particular concern, as these can be exacerbated by weakened immunity following other illnesses, such as malaria. Therefore, he emphasized the need to improve the quality of care and ensure timely and effective treatment for affected children.
Read more: Robert F. Kennedy Jr. Denies Link To Measles Outbreak At Senate Hearing
What is Measles?
Measles is one of the world's most contagious diseases, according to the World Health Organization (WHO), and is spread through coughs and sneezes.
The vaccine-preventable disease can affect people of any age but is most common among children, and can cause complications that include brain swelling and severe respiratory problems.
Symptoms typically appear seven to 14 days after exposure and may include:
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Ever tried logging off social media platforms like Facebook and Instagram? For many, checking notifications, scrolling through feeds, and engaging with content has become second nature, often leading to an unnoticed addiction.
While digital dependence can significantly impact mental health, relationships, and overall well-being, most people don’t realize how much time they’re actually spending online.
To understand its effects, researchers at Stanford University in the US asked the 36,000 study participants to log off on weekends from their Facebook and Instagram accounts. The results showed that the people who stayed off felt measurably better.
Disconnecting from social media was seen as a powerful way to regain balance and focus in the increasingly connected world.
The study split participants into groups: about 275 were paid to deactivate their accounts for six weeks, while others logged off for just one week. Both groups showed improved emotional well-being compared to those who kept scrolling, but the effect was more pronounced for Facebook users who went longer without it.
Facebook users over 35 showed the biggest mood improvements, while among Instagram users, the 18-to-24 group benefited most.
Also read: Is India Set To Implement A Social Media Ban For Children?
Social Media And Mental Health
An increasing number of studies and the community at large are convinced that social media are detrimental to our mental health and general well-being.
According to a recent YouGov poll taken in the UK in January 2026, 37 percent of adults gave a general negative review of social media's impact on their mental health, more than twice the number of people who say otherwise.
Merely 14 percent of them admitted to receiving a positive effect from social media on their mental health.
The Pew Research Center survey, conducted in 2024, discloses that 45 percent of US teenagers think social media is damaging their sleep, and 40 percent believe it is hurting their productivity, which are both key factors of mental health.
In 2023, former US Surgeon General Vivek Murthy named social media as a major threat to the mental health of teens. He also released a social media advisory about social media and mental health.
The advisory indicates that frequent social media use could be associated with changes in parts of the brain related to emotions and learning. Additionally, it can affect impulse control, social behavior, emotional regulation, and sensitivity to social punishments and rewards.
Read More: The Cost Of Social Media Addiction: Study Says It Can Give Kids Eating Disorders
In serious cases, social media can also contribute to self-harm or suicidal thoughts, especially among teens and children facing cyberbullying or trolling. Young people are particularly vulnerable to online pressures, negative comparisons, and feelings of rejection.
“Excessive social media exposure has been linked to anxiety, depression, sleep disruption, and, most importantly, difficulty with regulating attention and emotions. Algorithms intensify comparison, validation-seeking, and exposure to harmful content, which children lack the maturity to process,” Dr. Sachin Pradeep Baliga, Associate Consultant Mental Health & Behavioural Sciences, Fortis Healthcare, told HealthandMe.
According to mental health experts, moderation and mindfully controlled usage could be the key.
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It is far more effective to come up with a plan that helps your interaction with social media platforms be healthier, such as limiting your time on social media platforms, avoiding harmful content, and pursuing real-world connections, rather than completely demonizing social media.
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