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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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“All That” star Christy Knowings has died after reportedly suffering an asthma attack that led to cardiac arrest and brain damage.
The 46-year-old actress was hospitalized on August 7 after the attack and placed on life support, TMZ reported.
According to TMZ, citing family sources, Knowings suffered cardiac arrest following the asthma attack. Her family decided to take her off life support on August 11.
Knowings, who was born on February 25, 1980, in the Bronx, is the second former All That cast member to die this year, following the fatal hit-and-run death of Kianna Underwood in January in Brooklyn.
In a Facebook post, Knowings’ aunt wrote that her niece was an “outstanding actress, comedian, twin sister” and an “amazing daughter.”
Knowings’ reported death after complications from an asthma attack is a reminder that while asthma can often be managed, it should not be taken lightly, health experts told HealthandMe.
Dr. Abhijit Ahuja, Consultant Pulmonologist, Saifee Hospital, Mumbai, explained that asthma is a condition that makes it difficult to breathe because the airways become inflamed and narrow.
Many people with asthma can control their symptoms with medication. However, an asthma attack can sometimes become severe and life-threatening.
During an asthma attack, symptoms suddenly worsen and usual medication may not provide enough relief. A person may experience difficulty breathing, wheezing, chest tightness, severe coughing or trouble speaking.
“If you use your inhaler but still have trouble breathing, you need to go to the hospital right away,” Dr Ahuja said.
When the airways become so narrowed that the body does not receive enough oxygen, the asthma attack can turn severe. The lungs may also be unable to remove carbon dioxide properly.
“If this keeps happening, it can hurt parts of the body like the brain and the heart,” Dr Ahuja said.
A severe asthma attack can lead to difficulty breathing, loss of consciousness, brain injury and cardiac arrest.
Dr. Taniya Mehta, Consultant Respiratory Medicine, Sterling Hospitals, Gujarat, told HealthandMe that while most asthma attacks can be treated, a very severe attack can become deadly when the airways become so tight that the lungs cannot get enough oxygen.
“If treatment isn't given quickly, low oxygen levels can cause the lungs to stop working, damage the brain, cause the heart to stop and lead to death,” she said.
Seek emergency medical help if a person has:
People may be at greater risk if they:
Deadly asthma attacks are uncommon, but they can happen quickly, the doctors warned.
Taking asthma medication as prescribed, knowing how to use inhalers correctly, attending follow-up appointments and undergoing lung tests when needed can help keep asthma under control.
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Walking past a bakery and suddenly craving a pastry, even though you’re not physically hungry.
Seeing an ad for your favorite pizza while watching TV and suddenly thinking about ordering it, even though you’ve just had dinner.
Do you experience this too? This is often referred to as “food noise”—persistent cravings, thoughts or mental chatter about food that can occur even when you’re not physically hungry.
A 2025 study published in Nutrients found that 57% of people with obesity reported experiencing food noise.
Constant exposure to food cues—from social media posts and advertisements to food-delivery apps and supermarket aisles—can further fuel these cravings.
While thinking about food is a natural part of everyday life, for some people living with obesity, these thoughts can become persistent and difficult to escape. This may contribute to overeating and, over time, make weight and metabolic health harder to manage.
HealthandMe spoke to Dr. Jasjeet S Wasir, Bariatric & Metabolic Physician, Director, Medanta – The Medicity, to understand the mechanism behind food noise.
“Food noise is like having a notification pinging on your phone every few minutes. You can ignore it a few times, but eventually the constant pinging wears down your attention and willpower, and you give in to it and indulge,” Dr. Jasjeet said.
A more formal, non-medical definition of food noise is persistent, intrusive thoughts about food, such as cravings, mental “chatter” about what to eat next, or a preoccupation with eating that some people experience throughout the day, seemingly independent of actual hunger.
Normal hunger, or the “hunger of the body”, occurs when the body needs food and the brain responds to that need. Once adequate nutrition and calories have been consumed, appetite is influenced by satiety signals and hormones such as leptin, GLP-1 and insulin.
With food noise, however, thoughts about eating can persist even when a person is not physically hungry.
The biology behind food noise is not necessarily a primary defect in the physiological hunger system, but may involve overactivation of the reward system. This system influences mood, motivation, pleasure and cravings and can be activated by food-related cues such as sight, smell and memory, Dr. Jasjeet said.
Common situations in which people may experience heightened food noise include:
Dr. Jasjeet said that "there is no direct or linear correlation between prediabetes and food noise. The relationship is more complex, and it can be difficult to determine which comes first".
In a healthy state, insulin acts on appetite centers in the brain and helps suppress hunger. Prediabetes, in most cases, involves insulin resistance. Insulin resistance in the brain may alter this appetite-suppression effect and potentially contribute to persistent food-related thoughts.
At the same time, prediabetes, excess weight and increased cravings can share common underlying factors, including insulin resistance, inadequate sleep, stress, dietary patterns, genetics and the food environment.
"Food noise becomes important when thoughts about food begin to influence everyday eating behavior—for example, when a person repeatedly eats without physical hunger or finds it difficult to stop thinking about food," the expert said.
If persistent food-related thoughts contribute to excess energy intake and weight gain, they may adversely affect metabolic health and perpetuate insulin resistance. Over time, this can increase the risk of complications such as type 2 diabetes.
However, the doctor said that food noise is not a symptom or diagnostic marker of prediabetes. Prediabetes needs to be identified through appropriate blood glucose tests.
Dr. Manjunath Malige, Director, Endocrinologist, Diabetologist, Obesity & Weight Management Specialist, Sakra World Hospital, Bengaluru, told HealthandMe that people with prediabetes usually have some degree of insulin resistance, but insulin resistance alone cannot be said to cause food noise.
Appetite and eating behavior are complex and influenced by biological signals, brain reward pathways, environmental food cues, sleep, stress and learned behaviors.
In India, where diets can sometimes be carbohydrate-heavy and low in protein or fiber, some people may experience greater fluctuations in hunger and cravings. When this constant chatter around food becomes excessive, it can take up significant mental space. If it leads to frequent snacking or overeating, it can make weight and blood glucose management more challenging.
Dr. Jasjeet said the first step is not to fight food or impose extreme restrictions, but to understand what is driving the urge to eat.
The doctor noted that ask yourself: Is it genuine hunger, or are you eating because of stress, boredom, habit or simply because food is available?
Having structured, balanced meals with adequate protein, vegetables, fiber and healthy fats can improve satiety. Excessive restriction or skipping meals can sometimes make cravings worse.
Other important factors include:
Most importantly, the experts noted that the goal is not to never think about food, as food is an important part of our lives and culture. The concern is when these thoughts become intrusive, distressing or start controlling eating behavior. In such cases, it is important to seek professional guidance.
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Liver diseases are becoming increasingly common in India, yet many people are unaware of the difference between fatty liver and hepatitis. While both conditions affect the liver, their causes, treatment, and long-term risks are very different. Understanding these differences is important because untreated hepatitis can, in some cases, lead to liver cancer over time.
Fatty liver disease occurs when excess fat accumulates in the liver. In India, it has emerged as a major health concern due to rising rates of obesity, diabetes, sedentary lifestyles, and unhealthy dietary habits. Studies suggest that nearly one in three Indian adults may have fatty liver disease.
Also read: England Set To Become One Of The First Countries To Eliminate Hepatitis C; Here's How
One of the biggest concerns with chronic hepatitis, particularly Hepatitis B and Hepatitis C, is its association with liver cancer. The infection can silently persist for years without causing noticeable symptoms. During this period, continuous inflammation may lead to fibrosis (scarring), cirrhosis, and eventually hepatocellular carcinoma, the most common type of liver cancer.
According to the World Health Organization (WHO), chronic hepatitis B significantly increases the risk of liver cancer and remains one of the leading causes of liver cancer-related deaths worldwide.
India continues to carry a substantial burden of viral hepatitis. WHO estimates indicate that nearly 40 million Indians are living with chronic Hepatitis B infection and between six and twelve million with chronic Hepatitis C infection. Many remain undiagnosed because early disease often causes no symptoms.
Warning signs that should not be ignored include persistent fatigue, loss of appetite, abdominal discomfort, unexplained weight loss, jaundice (yellowing of the eyes and skin), dark urine, or swelling in the abdomen. However, many patients with chronic hepatitis may feel completely healthy until significant liver damage has already occurred.
Also read: How Chronic Hepatitis Quietly Progresses To Liver Cirrhosis: Why Early Action Can Save Your Liver
"The good news is that liver cancer arising from hepatitis is often preventable. Hepatitis B vaccination is safe and highly effective. Regular screening, timely antiviral treatment, and periodic liver monitoring can significantly reduce the risk of cirrhosis and liver cancer"- said Dr Ashwin Rajbhoj from M|O|C Cancer Care Pune. Similarly, maintaining a healthy weight, controlling diabetes, exercising regularly, and limiting alcohol intake can help prevent and reverse fatty liver disease in its early stages, he added.
The key message is simple: fatty liver and hepatitis are not the same disease. While fatty liver is primarily linked to lifestyle and metabolic health, chronic viral hepatitis can silently progress to liver cancer if neglected. Early diagnosis and timely treatment remain the best defence against serious liver complications.
By Dr Ashwin Rajbhoj, M|O|C Cancer Care, Pune
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