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.

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.

Regional Hot Spots

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.

Heat Events In The US

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.

How Does Heat Raise Heart Risks?

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.

How To Tackle The Risk

• Expanding green spaces and tree cover in urban areas could help reduce temperature-related adverse effects.
• Expanding access to cooling centers and air-conditioning assistance programs for low-income communities can also help bridge the gap in underserved communities.

"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.

Multiple Sclerosis (MS) is a chronic neurological condition in which the immune system attacks the central nervous system, leading to symptoms such as fatigue, chronic pain, bladder disturbances, gait imbalance, and blurry vision, among others. These symptoms fluctuate, progress over time, become life-limiting, and are not always outwardly visible.

Growing evidence shows that early diagnosis and timely initiation of high-efficacy therapies (HETs) can slow disease progression, reduce relapses, and preserve long-term neurological function. For many individuals living with MS, the struggle goes beyond simply managing their condition. It is also about whether the full impact of the disease is adequately recognized and understood by policymakers, healthcare systems, and the public at large.

Although MS is recognized as a disability under the Rights of Persons with Disabilities (RPwD) Act, 2016, people living with MS (PwMS) continue to face difficulties accessing disability-related support because their symptoms are not always consistent, visible, or measurable during assessment. This is particularly relevant in a condition like MS, where some of the most disabling symptoms remain invisible.

Living with an Unseen Disability

The effects of MS extend far beyond mobility issues alone. Fatigue, brain fog, memory problems, neuropathic pain, bladder dysfunction, visual disturbances, and emotional strain can significantly hinder a person's ability to work, engage socially, manage responsibilities, and fully participate in everyday activities.

One of the less understood aspects of MS is cognitive impairment, which affects a significant proportion of PwMS. MS causes inflammation in the brain and contributes to brain volume loss, thereby slowing processing speed, affecting concentration, impairing memory, and making planning or multitasking increasingly difficult. Even routine activities such as maintaining conversations, remembering instructions, or completing everyday tasks may become mentally exhausting.

Because many of these symptoms are episodic, variable, or invisible, PwMS may sometimes delay seeking specialist care, while the impact of the disease may also be underestimated by those around them. Yet, MS disease activity can continue even when symptoms appear intermittent or mild.

In MS, treatment decisions regarding the early initiation of the appropriate therapy (platform disease-modifying therapy versus high-efficacy therapy) can meaningfully influence long-term outcomes and quality of life.

Because slowing disease progression often requires highly potent intervention, evaluating a drug’s long-term safety profile becomes just as critical as its efficacy. Certain therapies may carry a risk of progressive multifocal leukoencephalopathy (PML)—a rare and potentially fatal viral brain infection that occurs under severe immunosuppression. Therefore, choosing a high-efficacy treatment with a favorable long-term safety profile is paramount.

When Clinical Reality and Functional Recognition Diverge

MS is inherently unpredictable. A person may appear physically stable during one evaluation but experience significant neurological difficulties during a relapse or disease flare-up.

In clinical practice, neurologists evaluate MS through disease progression, relapse patterns, imaging findings, and the EDSS scale (a standardized method used to quantify and measure the level of disability in PwMS).

Looking Ahead

Improving understanding of invisible symptoms in MS is important not only for social awareness but also for enabling patients to access timely care. Greater clarity, consistency, and sensitivity in approaches to chronic neurological conditions can help ensure that PwMS are better supported across healthcare, workplace, and social settings.

Earlier diagnosis, timely intervention, and stronger recognition of the day-to-day realities of living with MS can together help patients preserve dignity, maintain independence, and achieve better long-term outcomes.

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.

What Has Changed Under The New Rules?

Under the new rules, the FSSAI has:

• Expanded contamination standards related to lead and cadmium to include pulse flours such as besan and packaged mixes in addition to pulses.
• Updated limits for aflatoxins — toxic substances produced by certain fungi — in oils, oilseeds, and ready-to-eat oilseed products.
• Revised testing norms for arsenic in fish oils and updated standards for saffrole, a naturally occurring substance found in foods and beverages containing nutmeg and mace.
• Introduced residue limits for antibiotics such as trimethoprim and oxolinic acid in seafood products, including shrimps, prawns, and fishery products.

New Standards For Seed Oils And Edible Seeds

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.

Crackdown On Food Adulteration

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?

How Adulterated Foods Can Affect Your Health?

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:

• Cancer
• Lathyrism
• Liver disease
• Cardiac failure
• Kidney disease
• Nervous system-related diseases

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.