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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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A 30-year-old law student with Type 1 diabetes was hospitalized with diabetic ketoacidosis (DKA) after allegedly being advised to stop insulin while following the “VRK Diet” promoted by social media personality Veeramachineni Ramakrishna, popularly known as VRK.
According to the complaint, the student had been living with Type 1 diabetes since 2018. He alleged that he came across VRK’s social media videos claiming that the diet could permanently cure conditions including Type 1 diabetes, cancer and kidney disease.
The student later visited the VRK Health Care Centre in Hyderabad in September 2025, where he alleged that he was orally advised to stop taking insulin. He said he paid around ₹26,000 for supplements and services at the center.
Two days later, he was admitted to a private hospital with DKA and severe dehydration, according to the complaint. He was later discharged.
Hyderabad police have booked Ramakrishna and another person in an alleged fake-doctor and fraud case.
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More than 9 million people worldwide are estimated to be living with Type 1 diabetes, including about 1.8 million children and adolescents.
Type 1 diabetes occurs when the body cannot produce insulin. Insulin helps glucose move from the blood into cells, where it is used for energy. People with Type 1 diabetes therefore need insulin to control their blood glucose.
“Insulin is not optional in Type 1 diabetes,” Dr Sudhir Kumar, neurologist at Apollo Hospitals, Hyderabad, said in a post on X.
He advised people with Type 1 diabetes to never stop insulin on their own, including when they are unwell or unable to eat.
“Insulin doses may sometimes need adjustment, but this should be done with guidance from your diabetes team,” he said.
The NHS UK explains that the human body needs insulin to break down glucose, i.e. sugar, to turn it into energy. People who have type 1 diabetes need insulin devices as their own body cannot produce it.
When the body does not have enough insulin, it cannot properly use glucose for energy. It starts breaking down fat instead, producing chemicals called ketones.
If ketones build up in the blood, they can cause diabetic ketoacidosis, a serious and potentially life-threatening complication.
DKA can develop when there is too little insulin, including when a person with Type 1 diabetes misses insulin doses.
Dr Kumar advised people with Type 1 diabetes to regularly monitor their blood glucose and check blood or urine ketones when indicated, particularly during illness or persistent high blood sugar.
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Dr Kumar said people with Type 1 diabetes should know the warning signs of DKA, including:
Anyone with symptoms suggestive of DKA should seek urgent medical care.
Type 1 diabetes is an incurable condition. Dr Kumar warned people to be extremely cautious about claims that Type 1 diabetes can be “cured” through supplements, diets, herbs or alternative treatments that allow insulin to be stopped.
“Check the qualifications and registration of anyone giving medical advice. Social-media popularity is NOT a substitute for medical training,” he said.
“One wrong piece of advice can have life-threatening consequences. For Type 1 diabetes, evidence-based medical care and uninterrupted access to insulin are essential,” he added.
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Climate change is increasingly affecting human health, with the skin potentially among the first organs to show its effects, according to a new international study.
The analysis of 136 countries found that 42.6% reported climate-related changes in the prevalence, severity or both of skin diseases.
Presented at the European Academy of Dermatology and Venereology (EADV) Congress 2026, the study found that lower-income countries reported a greater burden.
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More than half of low-income countries (55.6%) and lower-middle-income countries (52.5%) reported climate-related changes in skin disease.
This compared with 43.8% of upper-middle-income and 28.3% of high-income countries.
Regional differences were also substantial:
In Africa, 42.9% of respondents were unsure about climate change's impact on skin disease, suggesting gaps in surveillance and evidence.
Among the 58 countries reporting climate-related effects, the most commonly reported changes included:
“The most important finding from our study is that climate change is already associated with negative impacts on skin disease, and these effects disproportionately burden lower-income settings,” said Dr. Esther Freeman, study author and Associate Professor of Dermatology at Harvard Medical School.
Read More: World Environment Day 2026: How Climate Change Is Increasing the Global Disease Burden | Explained
Rising temperatures, humidity, changing rainfall, air pollution and other environmental exposures can influence both the onset and severity of skin conditions.
Freeman said higher temperatures and humidity can increase sweating and skin irritation, while heat and air pollution may trigger or worsen inflammation.
“Shifts in temperature and rainfall can also affect the habitats of mosquitoes, ticks and other disease vectors, potentially allowing them to survive in places where they were previously uncommon,” she added.
The findings point to a wider climate-health disparity. Countries with fewer resources reported more climate-related changes in skin disease, despite generally contributing less to climate change.
These countries may also have fewer resources for disease surveillance, healthcare and climate adaptation.
The researchers called for stronger monitoring, greater awareness among healthcare professionals and locally tailored strategies.
The skin is constantly exposed to environmental conditions, making it particularly vulnerable to extreme weather events like flooding, wildfire smoke, etc.
As climate patterns change, the researchers said stronger surveillance and greater awareness of these emerging skin-health risks will be increasingly important.
Freeman stressed the need “to start treating skin health as part of climate-health preparedness.”
Key priorities include:
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Diabetes at 35 and diabetes at 60 are not the same. As we grow older, the way diabetes presents, the complications we worry about and even the way we treat it can change. This is why diabetes care after 60 needs to look beyond a single blood test.
HbA1c remains an important measure of average blood sugar over the previous few months. But for an older adult, it cannot be the only measure of good diabetes care.
One of the challenges with diabetes in older people is that symptoms may not always be obvious. A person may not experience the typical excessive thirst, frequent urination or unexplained weight loss, even when blood sugar levels are high.
At the same time, older adults can be more vulnerable to diabetes-related complications affecting the eyes, kidneys, nerves, heart and blood vessels. Vision problems are particularly important because loss of vision can directly affect mobility, confidence and independence.
This makes regular screening essential, even when a person feels completely well.
There is no single HbA1c cut-off that is appropriate for every older adult. Treatment goals need to consider age, overall health, cognitive function, physical function, existing complications and the person's ability to manage treatment independently. Current diabetes standards specifically recommend individualising glycaemic goals in older adults.
For example, a healthy 65-year-old who is active and independent may have very different treatment goals from an 80-year-old who is frail, has multiple medical conditions or needs help with daily activities.
The goal should be good blood sugar control without causing unnecessary harm, particularly hypoglycaemia.
As people age, kidney function can change, meals may become irregular and multiple medicines may be prescribed for different conditions. These factors can increase the risk of low blood sugar and make complex treatment plans harder to follow.
Therefore, doctors may need to review medicines regularly and simplify treatment when appropriate. The focus should be on finding a treatment plan that is effective, safe and practical for that individual.
A comprehensive diabetes review in an older adult should also consider:
The aim is not simply to produce a better HbA1c report. It is to prevent complications while helping the person remain active and independent.
Older adults with diabetes need adequate nutrition, particularly protein and other nutrients needed to maintain muscle mass. Excessive dietary restriction can sometimes do more harm than good.
Physical activity is equally important. Walking, strength exercises and balance activities, when medically appropriate, can help maintain mobility and reduce the risk of losing independence.
Diabetes management after 60 should be personalised and regularly reassessed. What is appropriate at 60 may not be appropriate at 75 or 85.
As we mark the International Day of Older Persons, the message is simple: living well with diabetes in later life is about much more than achieving a particular HbA1c.
We need to treat the person, not just the number — protecting their health, safety, dignity and independence as they grow older.
By Dr. Uthra S, Senior Consultant, Dr. Mohan’s Diabetes Specialties Centre
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