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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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Higher temperatures in the US could increase heat-related heart disease by 200 per cent by 2050, according to an alarming study.
The research, published in JAMA Cardiology, predicts rising temperatures driven by climate change will dramatically increase heat-related heart disease in the US.
It is already known that extreme heat is detrimental to heart health and can potentially trigger heart attacks and other cardiovascular events.
"But this study is the first to map out exactly how bad the problem could get—county by county, across the US. It also highlighted how states with lower median household incomes are likely to face higher heat-related heart disease burden," said Gokul Parameswaran, research associate at the Case Western Reserve School of Medicine's Cardiovascular Research Institute and the study's lead author.
Researchers analyzed heart disease data in each county in the contiguous US from 2010 to 2016 to develop projections through 2050.
They found that the Pacific Northwest has the highest heat-related heart disease rate in the country. Southern states, however, are projected to see the steepest increases by 2050.
"Climate change is not just an environmental issue—it is a health equity crisis, and prioritizing vulnerable communities must be at the center of any heat mitigation strategy," said Salil Deo, associate professor in the Department of Surgery.
Also read: Global Temperatures Likely To Stay Near Record Levels For Next Five Years: WMO
The study also found that aging — independent of temperature increases — will contribute an additional 34 per cent increase in heat-related heart disease by 2050, simply because there will be more older adults by then.
The study comes amidst more frequent heat events in the US, which is also lasting longer, and the temperatures during heat events are going up.
The past 10 years, from 2015 to 2024, were the hottest on record globally. But in cities across the United States, the average rate of extreme heat events increased from two per year in the 1960s to 10 per year between 2010 and 2020, according to Center for Climate and Energy Solutions (C2ES), a Washington-based NGO.
Also Read:‘Heat Dome’ Triggering Record-Breaking May Temperatures In France, UK, Spain
Additionally, as of 2024, the average length of heat-wave season in the US has increased by 46 days since the 1960s.
According to the Centers for Disease Control and Prevention, when temperatures rise, the heart must work harder to keep the body cool, and the likelihood of developing sudden clots in the bloodstream increases.
Read More: Can Extreme Heat Trigger Heart Palpitations? Expert Explains Risks
This extra stress on the heart due to high heat may lead to heart attacks or sudden worsening of heart disease, especially in the elderly or those with prior heart conditions.
"Climate change is not a distant, abstract threat," said Sanjay Rajagopalan, director of the Cardiovascular Research Institute and chief of Cardiovascular Medicine at University Hospitals Harrington Heart & Vascular Institute.
"It is a present and growing danger to the hearts of every American, and it is coming for the most vulnerable among us first. The choices made today about greenhouse gas emissions, urban planning, and health care policy will determine whether tens of thousands of Americans live or die from heat-related heart disease by 2050," he added.
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Amid increasing contamination and adulteration of food products, India’s food regulator has introduced new safety standards across a wide range of foods such as besan (gram flour), edible and cold-pressed seed oils, as well as prawns.
The draft regulations by the Food Safety and Standards Authority of India (FSSAI) cover heavy metals, toxins, antibiotic residues, and quality standards for both commonly used foods and emerging edible products, the Times of India reported.
The new regulations are expected to come into force on December 1.
Under the new rules, the FSSAI has:
In a separate draft notification, the FSSAI proposed quality and safety standards for lesser-used edible oils made from chilli, tomato, muskmelon, and okra seeds as demand rises for cold-pressed oils, seed-based snacks, and plant-based nutrition products.
The proposed norms require these oils to remain free from adulteration, harmful impurities, rancidity, and mineral oil contamination, while also prescribing limits for moisture, acidity, and metal content.
Also read: Can Beetroot Juice Help Lower Blood Pressure?
The draft rules also cover edible seeds such as watermelon, cucumber, pumpkin, sunflower, sesame, and flaxseed sold in raw, roasted, or salted forms, requiring them to be clean and free from insects, fungus, and visible contamination before sale.
FSSAI has invited public comments on the draft regulations for 60 days before finalization.
In Ghaziabad, the state food regulator seized 10 quintals of suspected paneer stored in unhygienic conditions. With contamination risks high, the joint team swiftly sampled the batch and destroyed the entire 1,000 kg consignment.
In Muzaffarnagar, food safety officials inspected an ice cream outlet. The drive focused on ice creams and ice candies to ensure they met regulatory standards. A total of three legal samples were collected.
Read More: Are Mangoes Safe for Oral Cancer Patients?
The FSSAI noted that hidden adulterants in everyday food can create serious concerns for consumers.
Food adulteration happens when there is an intentional addition of foreign or inferior substances to original food products.
A 2024 study published in SAGE Open Medicine noted various health impacts of adulterated food, including:
The study also noted that adulteration could lead to allergic reactions. Pregnant women, children, and the elderly are more prone to developing illnesses if adulterated food is consumed.
Credit: IITGN
Do you smoke herbal cigarettes believing they are “natural”, “chemical-free”, and “tobacco-free”? You may be mistaken. New research, ahead of World No Tobacco Day 2026, has raised concerns over the growing popularity of herbal cigarettes, suggesting that herbal cigarettes are not safer than conventional cigarettes and may be equally harmful to health.
The new joint study by the Indian Institute of Technology Gandhinagar (IITGN) and the University of Illinois Urbana-Champaign (UIUC), US, has found that herbal cigarettes can produce emissions comparable to — and in some cases more harmful than — those generated by tobacco cigarettes.
The study, published in the Journal of Hazardous Materials, highlight significant health concerns surrounding herbal smoking products, many of which currently fall outside India’s primary tobacco control laws.
The study compared emissions from two of India’s best-selling tobacco cigarette brands and four popular herbal cigarette varieties containing ingredients such as basil, clove, cinnamon, mint, green tea, water lily, and chamomile.
Two of the herbal products also used tendu (ebony) leaves as wrappers — the same material commonly used in bidis, India’s most consumed smoking product.
Also read: Global Temperatures Likely To Stay Near Record Levels For Next Five Years: WMO
Researchers analyzed the physical, chemical, and oxidative properties of mainstream smoke generated from the products. According to the study, herbal cigarette smoke released extremely fine particles and toxic compounds at levels similar to or exceeding those found in tobacco smoke.
“Our findings challenge the widely held belief that tobacco-free means risk-free. Emissions from herbal cigarettes are comparable to or exceed those from tobacco cigarettes on nearly every metric we measured. Leaf-wrapped herbal variants turned out to be the most hazardous of all the samples tested,” said Prof. Sameer Patel, Assistant Professor at IITGN’s Department of Civil Engineering and Chemical Engineering.
Further, the researchers combusted each cigarette inside a sealed automated two-chamber system designed to mimic human inhalation patterns, to decode particle size, chemical composition, and oxidative potential.
Shockingly, the team found that particles smaller than 500 nanometers — associated with cardiovascular and respiratory diseases — were emitted at nearly 20 per cent higher concentrations in herbal cigarette smoke compared to tobacco smoke.
The study also measured the “oxidative potential” (OP) of smoke particles — a marker of their ability to generate reactive oxygen species that contribute to inflammation, lung damage, and vascular disease.
According to the researchers, particulate matter from herbal cigarettes showed significantly higher oxidative potential than tobacco cigarettes. Tendu-leaf-wrapped variants recorded OP levels nearly 49 per cent higher than paper-wrapped products.
Notably, one basil-filled herbal cigarette marketed as “100% natural” and “chemical-free” showed the highest lead concentration among all products tested.
Prof. Vishal Verma, Associate Professor of Environmental Engineering at UIUC and co-author of the study, said the results are particularly significant because many consumers believe nicotine-free products are less harmful.
“That finding is important because many consumers associate nicotine-free products with reduced harm,” he said.
Read More: Can Sugary Drinks Cause Brain Aging?
Researchers also pointed to regulatory loopholes surrounding herbal cigarettes. India’s Cigarettes and Other Tobacco Products Act (COTPA), 2003, regulates tobacco products through health warnings, advertising restrictions, and public smoking rules. However, many products marketed as tobacco-free do not fall under the same regulatory framework.
Lead author Dr. Alok Kumar Thakur said several herbal cigarette brands claim therapeutic benefits, including relief from cough, anxiety, and sleep problems, despite limited scientific evidence on their safety.
“However, there is limited scientific evidence evaluating the emissions and toxicological impacts of these products,” he said.
The findings also align with the World No Tobacco Day 2026 under the theme, “Unmasking the appeal: countering nicotine and tobacco addiction.”
The researchers stressed the urgent need for evidence-based regulation and stricter oversight of alternative smoking products to prevent misleading health claims and protect public health.
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