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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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Ramzan, the holiest month in Islam, marked by dawn-to-dusk fasting, poses health risks for people with diabetes. Health experts urge patients to consult their doctors before observing the fast.
Ramzan is a period of intense spiritual reflection, self-discipline, and devotion for Muslims worldwide. During the month-long fasting period, the believers refrain from eating and even drinking (including water), from dawn to sunset.
The faithful eat a modest meal (sehri) before the first light of dawn to provide energy for the day. The fast is broken at sunset, traditionally starting with dates and water, followed by a larger meal (iftar).
According to health experts, for individuals whose diabetes is well controlled, fasting may be possible with proper adjustments.
"Diabetes requires regular monitoring, balanced meals, and timely medication. When eating patterns change during Ramzan, blood glucose levels can fluctuate. That is why I strongly recommend consulting your doctor before you plan to fast,” Dr. Saptarshi Bhattacharya, Senior Consultant, Endocrinology, Indraprastha Apollo Hospitals, told HealthandMe.
The expert advised people not to skip sehri, and to include complex carbohydrates such as whole grains, along with protein like eggs, dal, or curd, and plenty of fluids to help maintain stable glucose levels throughout the day.
At iftar, avoid overeating. Start with light, balanced food and limit fried items, sweets, and sugary drinks, as these can cause a sudden spike in blood glucose, Dr. Bhattacharya said.
Type 2 Diabetes patients with good glycemic control, lifestyle management, or stable oral medications can fast safely.
However, those on multiple insulin doses, with complications, or with poor control are considered moderate to high risk, Dr. Kartik Thakkar, Consultant Medicine, Ruby Hall Clinic, told HealthandMe.
The health expert also noted that most Type 1 diabetes patients are considered high risk, especially those with brittle diabetes, frequent hypoglycemia (low blood sugar), or a history of diabetic ketoacidosis (DKA). Many are medically advised not to fast, particularly if glucose control is unstable.
Children and adolescents with type 1 diabetes are considered high risk and are usually advised against fasting due to the unpredictable nature of insulin requirements.
Dr. Thakkar said that such individuals fall into the very high-risk category and are medically exempt from fasting.
The expert also suggested clinical tests to determine whether a diabetic patient is fit to fast. These include:
A diabetic patient must break the fast if:
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A new study has shown that people who survived COVID-19 infections are more likely to develop obstructive sleep apnea (OSA) for years after the infection with the SARS-CoV-2 virus.
OSA is a common and serious sleep disorder that causes the throat muscles to relax and block the airway, resulting in fragmented, nonrestorative sleep, low blood oxygen, and loud snoring.
The February 2026 study, published on the preprint server medRxiv, found that people with both severe and non-severe COVID infections are at higher risk of developing sleep apnea and other sleep issues for 4.5 years.
"SARS-CoV-2 infection is independently associated with increased risk of new-onset OSA. These findings support targeted screening in post-COVID populations,” said Sagar Changela, Department of Radiology, Albert Einstein College of Medicine, in the paper.
Although an infection with the SARS-CoV-2 virus has been associated with long-term respiratory and neurological conditions, its role in new-onset OSA remains unclear.
The retrospective study, which has not been peer-reviewed, involved 910,393 patients. The results showed that patients hospitalized due to COVID were 41 percent at risk of new onset of OSA.
One-third of people with mild COVID infection, who weren't hospitalized, also suffered from sleep issues.
The researchers also linked OSA to cardiovascular, metabolic, and cognitive morbidity. The team found that OSA increased the risk of heart failure and pulmonary hypertension among hospitalized COVID patients, compared to those with mild infections.
On the other hand, the non-hospitalized COVID patients were significantly more likely than controls to develop obesity.
Further analyses showed that the risk of new-onset OSA was higher in hospitalized COVID patients with asthma and those who were younger than 60 years. Notably, women were also found at greater risk than men, while vaccination status did not vary by risk.
According to the team of researchers, the major factors for OSA among COVID patients are low-grade systemic inflammation after a SARS-CoV-2 infection that reduces upper-airway neuromuscular control.
In addition, the higher levels of inflammatory cytokines often seen in long-COVID patients can also affect respiratory drive and upper-airway stability -- key factors for OSA.
Sleep apnea is a serious sleep disorder where a person's airway can collapse completely or partially. It causes breathing lapses during sleep, and the body stops breathing many times while an individual is asleep. It also weakens throat muscles, leading to airway collapse during sleep. The decrease in oxygen saturation can also lead to death.
While OSA is the most common type of the sleep disorder, other types include central sleep apnea and complex sleep apnea.
Obesity is the major cause of this disorder, and loud snoring is the most common symptom. The person suffering from the condition feels tired, even after getting adequate sleep.
Treating sleep apnea is key to preventing long-term health complications such as cardiovascular disease, hypertension, diabetes, stroke, and increased mortality.
CPAP machines, oral appliances, and lifestyle modifications are common and effective treatment measures.
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Are you still sitting down to put your sock on? A new study says that it may be an indicator that you are getting old. A research commissioned by American Pistachio Growers, partnered with British actor and comedian John Thomson, teamed up with nutritionist Rob Hobson to embrace aging positively. The research looked at common day-to-day signs of aging and found that 39 per cent of those surveyed (out of total 5,000 people over 40s) wanted a quiet drink over a night and they cared less about fashion. The research revealed that this could be an indicator that "you are creeping into the old category".
About one in three respondents (33 per cent) said they first felt they were no longer young when they caught themselves groaning while bending down.
Other telltale signs included discussing aches and pains with friends (30 per cent), preferring a quiet pub over a noisy bar (27 per cent) and naturally waking up at 6 am (12 per cent).
The survey also found people typically start feeling “not young” around 50, although 38 per cent believe old age now begins in the 80s rather than the 50s or 60s.
At the same time, 36 per cent said they have adopted habits to stay youthful, such as taking vitamins or supplements, choosing healthier snacks (19 per cent) and increasing protein intake (17 per cent).
"Getting older is inevitable, but you can still live life to the full. It is about embracing experience, having a laugh about the realities of aging and making small changes that actually make a difference. You don't need to overhaul your life, just make some healthy tweaks to your daily routine," said John.
Interestingly, only 36 per cent of people in the survey actually said they feel old. In fact, 27 per cent reported feeling more comfortable in their own skin now than when they were younger, and 18 per cent of those over 30 said they are more satisfied with life than they were in their thirties.
Lifestyle choices also seem to shift with age. Around 39 per cent now prioritize comfort over fashion, 34 per cent enjoy going for walks and 19 per cent have taken up gardening or DIY projects. Healthy eating becomes more intentional too, with 60 per cent of men and 61 per cent of women saying they are more health conscious than before.
Their motivations are practical: avoiding illness (59 per cent), staying active (58 per cent) and maintaining independence as they age (47 per cent).
TV nutritionist Rob Hobson, who partnered with American Pistachio Growers to promote the nut as an easy addition to a healthy routine, said ageing is less about decline and more about awareness. “Getting older isn’t about slowing down, it’s about making smarter choices,” he said. “Simple habits like eating nutrient-rich snacks, staying active and prioritizing sleep can help you feel youthful for longer. Age is just a number, but how you fuel your body makes all the difference.”
Suzanne Devereaux-McKinstrie, spokesperson for the non-profit organization, echoed the sentiment, saying later years can be empowering. “Getting older isn’t just about limitations, it’s about opportunities. It’s the perfect time to explore new hobbies, prioritise wellbeing and celebrate the confidence that comes with experience,” she said, adding that diet plays a key role in staying strong and active.
Top 25 Signs That Reveals You Are Getting Older
| 1 | Talking about aches and pains with friends |
| 2 | Groaning when bending down |
| 3 | Preferring quiet venues to noisy ones |
| 4 | Preferring a quiet drink over a night out |
| 5 | Enjoying an early night |
| 6 | Not caring about the latest fashion trends |
| 7 | Thinking that new music isn’t as good as it used to be |
| 8 | A recurring ache that doesn’t disappear |
| 9 | Using phrases like ‘back in my day’ or ‘remember when….?’ |
| 10 | Sitting down to put socks on |
| 11 | Caring less about how you look |
| 12 | Taking shoes off as soon as you get inside – slippers have become a necessity! |
| 13 | Noticing something you wore in your youth is now back in fashion |
| 14 | Starting conversations with ‘Do you remember when…?’ |
| 15 | Reading menus at arm’s length |
| 16 | Talking to yourself |
| 17 | Moaning about politics |
| 18 | Feeling more confident/self-assured |
| 19 | Getting up at 6am naturally |
| 20 | First “Who?” when watching the Brit Awards |
| 21 | Looking forward to gardening |
| 22 | Feeling confounded by AI |
| 23 | Listening to the radio or podcasts instead of club music |
| 24 | Getting excited about new home appliances |
| 25 | Checking the weather forecast hourly |
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