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.

A new Lancet study titled Burden of MASLD and liver fibrosis: evidence from the Phenome India cohort published in The Lancet Regional Health - South Asia found that nearly four in 10 Indian adults have fatty liver or what scientifically is known as the metabolic dysfunction-associated steatotic liver disease (MASLD), formerly non as NAFLD or non-alcoholic fatty liver disease.

The study also highlights a more worrying condition that a sizeable proportion of the Indian population already show signs of liver fibrosis. This is an early scarring process that could lead to cirrhosis or liver cancer if left unchecked.

Lancet Study: How Was It Conducted?

The study analyzed data from more than 7,700 adults across 27 cities in India. The study found that 38.9 per cent of participants had MASLD. The authors also noted that this figure is similar to the global estimates, however, is deeply concerning for India's population and size of the country, including the ever-rising burden of diabetes and obesity.

The study also found that 6.3 per cent of people who live with MASLD had significant liver fibrosis, as compared to 1.7 per cent of those without fatty liver.

Read: Indians Are At Most Risk Of Having Fatty Liver Disease, According To Doctor

The study also found that 2.4 per cent of the entire population analyzed showed evidence of significant fibrosis. Why is this concerning? Fibrosis is a strong predicator of future complications. With the advancement of scarring, liver failure, cirrhosis, and liver caser risk also rises.

Lancet Study: Who Are At Risk?

The study found that people with obesity, diabetes, and central or abdominal fat were more likely to have MASLD. Obesity also was seen as the strongest risk factor, with likelihood rising steeply from overweight to severe obesity.

Another factor was also age. Liver fibrosis was seen in adults over the age of 60 years and in people with diabetes, among whom nearly one in ten showed fibrotic changes.

The study also showed that there was a presence of "Lean MASLD", which means it could also happen in people who are not overweight and have a normal body mass index. This is often linked to insulin resistance and visceral fat, which is the fat around internal organs. This tend to accumulate abdominal fat even at lower body weights.

Lancet Study: Can MASLD And Other Liver Diseases Be Prevented?

As per the authors of the study, MASLD is highly modifiable, especially at early stages. There are evidence that show that weight loss reduces liver fat and inflammation. Regular physical activity also improves insulin sensitivity, along with balanced diet. The diet must be consumed without or with very low sugar and ultra-processed food, which helps in control of diabetes and cholesterol and slows down disease progression.

Authors also noted that people should get their fatty liver disease scanned regularly. Especially because MASLD is common among people with obesity and diabetes. There are many non-aggressive tools that could also detect fibrosis early.

When Robert F Kennedy Jr took charge of America's health as the Secretary of Health and Human Services in 2025, the promise was sweeping. It included: restoring trust, clean up the food supply, rethink vaccine, though he clearly did state during debates that he is not against it, and reshape a system he said had failed many families for decades.

On February 13, 2025, the day he was sworn in, the US President Trump said, "Our public health system has squandered the trust of our citizens. They don’t trust us. They don’t trust anybody, frankly. They’ve gone through hell.” Trump promised that Kennedy would "lead out campaign of historic reforms and restore faith in American health care". A year from now, Health and Me analyzes those MAHA (Make America Healthy Again) promises.

he Make America Healthy Again (MAHA) movement produced policy changes, lawsuits, agency upheavals and intense public debate, but also falling trust in public health agencies and uncertain long-term impact.

Read: I'm Not Afraid Of Germs, I Snorted Cocaine Off Toilet Seats, Says US Secretary of Health, RFK Jr

The Fight Against Ultra Processed Foods

Kennedy’s campaign had centered on a simple message: American children are sicker because their food is broken. As health secretary, he created a MAHA Commission to investigate children’s health.

Its first report blamed rising chronic illness partly on diet and raised alarms about herbicides like glyphosate and atrazine being found in children and pregnant women. Farmers and food companies revolted, lobbying lawmakers in agricultural states.

The backlash worked. By the commission’s follow-up report in September, pesticide references had vanished entirely, a clear sign of political limits.

Read: Under RFK Jr's MAHA, More Food Dyes Are Getting Banned In US

Still, Kennedy pushed nutrition policy aggressively. New dietary guidelines promoted whole milk, red meat and less ultraprocessed food. Supporters applauded a focus on real food, and food companies even pledged to remove artificial dyes by 2027.

But critics said the results were partial at best. Nutrition expert Dr. Marion Nestle told CNN that despite momentum, progress stalled: “One big disappointment is the lack of progress on removing industrial and agricultural chemicals from the food supply.”

An Anti-vaxxer's Vaccine Policy

No area defined Kennedy’s first year more than vaccines.

He fired members of a CDC advisory panel, replaced them, sometimes with skeptics, and cut the list of routinely recommended childhood vaccines from 17 to 11, aligning the U.S. closer to Denmark’s schedule. Several vaccines, including flu and hepatitis A, were removed from routine recommendations.

Supporters framed it as restoring parental choice. Critics called it dangerous.

Read: RFK Jr. Removes Entire CDC Vaccine Advisory Committee

Yale public health expert Dr. Jason Schwartz told CNN the consequences could be severe: “Today, the federal government’s public health agencies and leaders represent the greatest threat to efforts to prevent measles… a scenario that would have been inconceivable a few years ago.”

Outbreaks soon followed, measles deaths returned after a decade without them. And polling showed trust in the CDC falling from 59% to 47%.

Kennedy argued declining trust started before him and that transparency would fix it. But many scientists disagreed. Infectious disease expert Dr. Michael Osterholm told CNN the new approach replaced evidence with politics: “Decisions are being made based on ideology.”

Health Agencies Saw A Lot Of Hirings, Firings, And Restructuring

Within days of Kennedy’s swearing-in, thousands of employees across CDC, FDA and NIH were fired in a sweeping reorganization aimed at shrinking the department by about 20,000 workers.

Leadership churn followed. A CDC director was ousted, nominees withdrawn, senior officials resigned, and a major shooting at CDC headquarters, carried out by a man angry about vaccines, intensified tensions. Hundreds of staff later urged Kennedy to stop spreading misinformation.

Researchers warned expertise was disappearing. Johns Hopkins epidemiologist Dr. Caitlin Rivers told CNN local health departments depend on federal specialists: "A lot of those people aren’t there anymore.”

Read: How Susan Monarez's Appoint As CDC Director Can Change US Health Sector?

Meanwhile, Kennedy struggled with forces outside his control. According to Politico reporting, his attempts to regulate agricultural chemicals faltered because authority belonged to the Environmental Protection Agency and Republican lawmakers pushed back heavily.

At the Food and Drug Administration, Kennedy’s agenda pulled in two directions.

On one hand, the administration sought cheaper drugs and faster access. On the other, it raised evidence standards and blocked or slowed approvals, including scrutiny of a muscular dystrophy therapy after patient deaths.

Also Read: Top U.S. Medical Associations Ousted from CDC Vaccine Workgroups in Sudden Shake-Up

Even allies noticed contradictions. The agency alternated between right-to-try deregulation and skepticism toward pharmaceutical safety. The result: uncertainty for both industry and patients.

Restoring Faith In Public Health

Trump promised Kennedy would restore faith in public health. Instead, surveys show trust in both health agencies and Kennedy himself fell.

Read: What Is 'Make America Healthy Again' All About?

Nutrition reforms gained modest support. Drug price messaging resonated politically. But experts repeatedly emphasized the same conclusion: vaccine policy overshadowed everything else.

Nutrition policy expert Dr. Jerold Mande told CNN messaging that authorities had lied for decades may have backfired:

“Most people will take from that: we shouldn’t trust anybody."

The World Health Organization (WHO) is urging countries to accelerate efforts to provide proper eye care, as a new Lancet Global Health study shows that nearly half of all people across the world facing cataract‑related blindness still need access to surgery.

As of now, statistical models predict that the global coverage of cataract surgery is set to increase by about 8.4 percent this decade. However, progress needs to accelerate sharply to meet the World Health Assembly target of a 30 percent increase by 2030.

Devora Kestel, Director, WHO Department of Noncommunicable Diseases and Mental Health: "Cataract surgery is one of the most powerful tools we have to restore vision and transform lives. When people regain their sight, they regain independence, dignity, and opportunity."

The literature review, which analyzed reports from 68 country estimates for 2023 and 2024 shows that the African Region faces the greatest gap, with three in four people who need cataract surgery remaining untreated.

Additionally, women are disproportionately affected across all regions, consistently experiencing lower access to care than men.

Researchers noted that the gap in access to surgery was mostly due to long-standing structural barriers, including shortages and unequal distribution of trained eye-care professionals, high out-of-pocket costs, long waiting times and limited awareness or demand for surgery, even where services exist.

In addition, while age is the primary risk factor for cataract, other contributors such as prolonged UV-B exposure, tobacco use, corticosteroid use and diabetes can accelerate its development.

What Is A Cataract?

Most cataracts develop slowly and don't disturb eyesight early on. But with time, cataracts will eventually affect vision. Symptoms of cataracts include:

• Clouded, blurred or dim vision.
• Trouble seeing at night.
• Sensitivity to light and glare.
• Need for brighter light for reading and other activities.
• Seeing "halos" around lights.
• Frequent changes in eyeglass or contact lens prescription.
• Fading or yellowing of colors.
• Double vision in one eye.

At first, stronger lighting and eyeglasses can help deal with cataracts. But if impaired vision affects usual activities, cataract surgery might be needed. Surgery is generally a safe, effective procedure.

Can Rising Pollution Levels In India Worsen Eye Health?

The doctors confirmed that most cases now appear with patients who have allergies, dryness, burning sensations and excessive watering in the eyes. The pollution is not only affecting children, but adults are also equally impacted.

Dr Ikeda Lal, Senior Cornea, Cataract and Refractive Surgery Specialist at Delhi Eye Centre and Sir Ganga Ram Hospital told PTI: "Every year after Diwali, we brace for a rise in eye complaints. The number of patients complaining of itching, redness, and irritation has gone up by almost 50-60 per cent."

A study from 2022 published in the International Journal of Environmental Research and Public Health notes the adverse effects of air pollution on the eyes. Air pollution is a mix of complex gas-phase pollutants and particles that are disbursed into the atmosphere and are harmful.

It comprises:

• Sulfur dioxide
• Nitrogen dioxide
• Carbon dioxide
• Nitrogen monoxide
• Carbon monoxide
• Nitrogen oxides
• Particulate matter 2.5 or PM2.5
• Particulate matter 10 or PM10

Air pollution is known to cause cardiovascular disorders, respiratory tract problems, ocular disease, neurologic disease, cancer, and even death, notes the study.

In terms of its impact on the eyes, the pollutants usually work as irritants, which can cause inflammation and irritation in the eyes.

The cornea is the most sensitive structure in the human body due to its innervation in the ocular surface, which makes it extremely sensitive to environmental agents. The pollutants could thus cause conjunctivitis, which could become a frequent problem.

In addition to that, household pollution could also produce volatile organic compounds; for instance, formaldehyde could cause DNA damage in animal cells, and its carcinogenicity has been assessed by many studies too.