What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

Updated Feb 7, 2025 | 08:00 AM IST

SummaryAlkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, cartilage damage, and skin discoloration. It has no cure but can be managed.
What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

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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.

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.

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COVID Symptoms 2026: Study Maps Common Symptom Patterns Seen In Long COVID Patients

Updated Jan 8, 2026 | 06:00 PM IST

SummaryCovid symptoms 2026 explained: A large global review outlines recurring long COVID symptom clusters, including fatigue, neurological issues, respiratory problems, and how variants, age, and gender shape long-term effects. Keep reading for details.
covid symptoms 2026

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Long COVID should be viewed as a web of overlapping symptoms rather than a single, uniform condition, according to a new systematic review published in eClinicalMedicine and reported by the Center for Infectious Disease Research and Policy (CIDRAP). The review highlights several recurring symptom patterns linked to long COVID, including neurological, respiratory, smell and taste-related, cardiopulmonary, and fatigue-driven clusters.

Researchers led by a team from Lanzhou University in Gansu, China, examined data from 64 studies conducted across 20 countries, covering nearly 2.4 million people. They grouped long COVID patients into subtypes using different approaches: symptom overlap in 30 studies, affected organ systems in 16 studies, symptom severity in nine, clinical markers in three, and other classification methods in the remaining research.

COVID Symptoms 2026: Fatigue Emerges As The Most Common Symptom

Among studies that focused on how symptoms appear together, fatigue stood out as the most consistently reported issue. It often occurred alone or alongside problems such as muscle and joint pain, brain fog, or breathlessness. Other symptom pairings that appeared frequently included loss of smell and taste, anxiety with depression, and various forms of musculoskeletal pain.

When researchers classified patients based on affected organ systems, respiratory problems were the most widespread, seen in about 47% of long COVID patients. Neurological symptoms followed at 31%, while gastrointestinal issues were reported by 28%. The authors stressed that these percentages reflect how often these clusters appeared within long COVID cases studied, not how common they are in the general population.

A smaller number of studies sorted patients by how severe their symptoms were, dividing them into mild, moderate, or severe categories using symptom scores, symptom counts, or quality-of-life measures. Three studies used clinical indicators for classification, including abnormal triglyceride levels and signs of restricted lung function on imaging.

COVID Symptoms 2026: Women Report Fatigue More Often

The review also found that long COVID subtypes vary based on demographic, socioeconomic, and medical factors. Women were more likely to report fatigue and neuropsychiatric symptoms, while men more commonly experienced respiratory issues. Older adults tended to show higher rates of respiratory, cardio-renal, and ear, nose, and throat symptoms.

Racial and ethnic differences also emerged. Black and Hispanic individuals were more likely to experience respiratory, cardiac, and neuropsychiatric symptoms, whereas White patients showed higher rates of fatigue and musculoskeletal complaints.

COVID-19 variants appeared to influence symptom patterns as well. The researchers noted that the Alpha variant was closely linked to smell-related and respiratory symptoms, while the Delta variant raised the risk of ENT-related problems. In addition, higher body mass index, socioeconomic disadvantage, and existing conditions such as chronic obstructive pulmonary disease were strongly associated with cardiopulmonary symptom clusters and a heavier overall long COVID burden.

Overall, the findings reinforce that long COVID rarely affects just one system in the body. Instead, it tends to involve multiple overlapping symptom groups, pointing to the need for more tailored, patient-specific care.

The authors call for future studies to focus on creating standardized ways to classify long COVID, identifying the biological mechanisms behind different symptom clusters, and testing targeted treatments for specific subtypes. They note that this approach will be essential for moving toward precision medicine and improving outcomes for people living with long COVID.

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Measles Cases Hit Record Highs In The US: When Are Infected People Most Contagious?

Updated Jan 8, 2026 | 08:00 PM IST

SummaryMeasles cases are rising sharply in the US, reaching the highest levels since 2000. Here’s how contagious measles is, how long infected people can spread it, and why officials are concerned.
measles cases high us how contagious

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Measles is one of the most infectious illnesses known, and as case numbers rise across the United States, health experts warn the country is close to losing its measles elimination status. The current surge marks the highest number of measles cases recorded since the disease was officially eliminated in the U.S. in 2000. In 2025 alone, more than 2,100 cases have been reported nationwide. Texas has emerged as the hardest-hit state, accounting for roughly two out of every five confirmed infections. So just how easily does measles spread?

Measles Cases Increase In The US

As of January 8, a total of 2,065 measles cases had been confirmed across the country, according to the latest figures from the U.S. Centers for Disease Control and Prevention (CDC). The last time the U.S. recorded a higher annual total was in 1992, before the routine recommendation of two doses of the measles-mumps-rubella (MMR) vaccine for children, CNN reported.

Several major outbreaks remain active, including one in upstate South Carolina and another along the Arizona-Utah border. These clusters have renewed fears that the U.S. could lose its measles elimination status, which it has maintained for more than two decades. While measles spreads easily, vaccination remains highly effective. One dose of the MMR vaccine offers about 93% protection, and two doses increase effectiveness to 97%, according to the CDC.

What Is Measles?

Measles, also known as rubeola, is a highly contagious viral illness that typically causes fever, cough, a runny nose, red and watery eyes, and a distinctive red, blotchy rash that usually begins on the face and spreads downward. The virus spreads through the air when an infected person coughs or sneezes and can lead to serious complications such as pneumonia or brain inflammation. Despite its severity, measles is preventable through a safe and effective vaccine, as per the Mayo Clinic.

How Contagious Is Measles?

Measles is among the most contagious diseases in the world. The virus spreads through airborne droplets that can linger in the air or on surfaces for hours. Up to 90% of unvaccinated people who are exposed to measles will become infected. A single infected person can pass the virus to an estimated 12 to 18 others through close contact or shared spaces. People can transmit the virus days before symptoms become obvious and continue spreading it after the rash appears, according to the World Health Organization.

How Long Is Someone Contagious With Measles?

Someone infected with measles can spread the virus from four days before the rash develops to four days after it appears. The virus spreads so efficiently that about 90% of people who are unvaccinated or have never had measles will become infected after being exposed.

In November, Canada lost its measles elimination status following a significant outbreak, according to the Pan American Health Organization, which works closely with the World Health Organization.

“It’s important to say that all the other 34 countries in the region, they keep their certification as measles-free,” said PAHO/WHO Director Dr. Jarbas Barbosa at the time, as per NPR News.

U.S. health officials have also warned that genetic links between outbreaks in different states suggest continued spread.

“The trajectory that we’re looking at now is that we do anticipate more cases well into January,” Bell said. “What that means for us nationally in terms of how they are defining our designation in this country as having eliminated measles is unclear.”

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This Widely Used Dementia Drug May Raise Stroke Risk In All Patients, Study Finds

Updated Jan 8, 2026 | 10:00 PM IST

SummaryA large UK study of over 165,000 dementia patients finds risperidone raises stroke risk in all users, prompting concerns over prescribing, monitoring, and dementia care guidelines. Keep reading for details.
risperidone dementia

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A major UK study tracking more than 165,000 people living with dementia has found that risperidone raises the risk of stroke across all patients, calling into question the long-held belief that the drug may be safe for certain groups.

Risperidone is a potent antipsychotic commonly given to people with dementia who develop severe agitation, particularly in care homes, when non-medicated approaches have failed.

Researchers observed that the risk of stroke rose even in patients with no previous history of heart disease or stroke. The finding challenges assumptions about who can safely take the drug and has prompted fresh concerns about how risperidone, the only medication of its kind licensed for dementia, is prescribed and followed up.

The findings, published in the British Journal of Psychiatry, are likely to fuel renewed discussion around current prescribing practices.

What Is Risperidone?

Risperidone, sold under brand names such as Risperdal and Risperdal Consta, is an atypical antipsychotic that affects brain chemicals including dopamine and serotonin. It is a prescription-only drug.

Risperidone: Risk Holds Across Patient Profiles

One of the study’s key insights was that the increased stroke risk appeared consistent across different types of patients, according to Dr Byron Creese of Brunel University of London. “We already knew risperidone was linked to stroke, but it was unclear whether some people were more vulnerable than others. We hoped to identify traits that could help doctors avoid prescribing it to higher-risk patients,” he said, as reported by Scitech Daily.

About half of all people with dementia experience agitation, which can be deeply upsetting for both patients and carers. When other methods do not help, risperidone is sometimes used as a last measure. The new evidence sharpens the difficult choices doctors and families face, weighing the drug’s ability to ease extreme distress against its clearly increased stroke risk.

Risperidone: Gaps In Guidance And Monitoring

Risperidone, often used to manage aggressive behaviour, already carries warnings about stroke risk in older adults. However, there is still no dementia-specific guidance on how clinicians should monitor these risks. While NHS advice limits risperidone use to six weeks for severe symptoms, many patients remain on it longer, with follow-up practices differing widely.

Dr Creese noted that there are no UK-licensed alternatives for such cases, making it essential that risks are clearly discussed and carefully balanced. People who have already had a stroke are naturally at higher risk of another. If a stroke occurs while taking risperidone, it may not always be possible to separate drug-related risk from underlying vulnerability. “These results give clearer information to guide decisions,” he said. “Each case should come down to what is right for the individual, through open conversations between doctors, patients, and families.”

What The Data Proves

Researchers examined anonymized NHS records from 2004 to 2023, comparing patients prescribed risperidone with similar individuals who were not. Among those with a prior stroke, the annual rate per 1,000 person-years rose to 22.2 percent in people taking risperidone, compared with 17.7 percent in those who were not. In patients without a stroke history, rates were lower but still notable at 2.9 percent versus 2.2 percent. The risk was also higher during short-term use of up to 12 weeks, according to Scitech Daily.

“We hope this evidence helps shape updated guidance that is more focused on individual patients and real-world risk,” Dr Creese said.

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