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.

At the age of 28, Courtney Paton realized she could never have children. She was medically infertile. This was after years of repeated surgeries, a total of seven, for 'suspected' endometriosis, due to which Dr Simon Gordon, Melbourne-based gynecologist removed both her ovaries and eventually her uterus.

Her story came to light through an investigation by the Australian Broadcasting Company or ABC's Four Corners, an investigation that looked at the treatment she received from Dr Gordon.

Courtney says she trusted the doctor completely. Now she says that trust has been shattered. “I feel completely betrayed by not only Simon Gordon, but by Epworth, by the healthcare system,” she told the program.

A Wrong Diagnosis That Led to Repeated Surgeries

Courtney first had laparoscopic surgery in 2018 with another surgeon, which confirmed she had endometriosis. The condition affects about one in seven Australian women and can cause severe pelvic pain and fertility problems.

Still struggling with pain, she began seeing Gordon in 2019 when she was 21.

Over the next several years she underwent seven surgeries with him. Gordon told her the procedures were necessary to treat severe endometriosis. Courtney and her family paid more than 32,000 Australian dollars for these surgeries alone.

But when investigators asked her to obtain her pathology reports, the results told a very different story. The tissue tests from most of her surgeries showed no evidence of endometriosis.

Despite this, operation reports written by Gordon continued to describe findings consistent with the disease.

Read: A Woman Lost Her Ovary To Endometriosis Surgery After Receiving An Ultimatum From Gynecologist

Removal of Both Ovaries

In 2021 Gordon removed one of Courtney’s ovaries, saying it was stuck to the pelvic wall. Later he removed the second ovary as well.

Independent specialists who reviewed the pathology for the investigation said the ovary appeared normal and there was no clear justification for removing it. One expert described the treatment as “unbelievable” after reviewing the medical records.

Medical guidelines generally advise caution when removing ovaries from young women who may want children in the future.

Read: This Is Endometriosis, A Short Film On Debilitating Health Condition Wins BAFTA Award 2026, Know More

A Hysterectomy At 25

Despite losing both ovaries, Courtney continued to experience pelvic pain. Gordon later advised that she should undergo a hysterectomy.

Concerned, she sought a second opinion from another gynecologist who said the procedure was unnecessary and suggested non surgical treatments.

But after years of pain and repeated surgeries, Courtney says she felt desperate for relief and trusted the doctor who had treated her for so long. Her uterus was removed in 2023 when she was just 25.

Again, pathology results found no evidence of endometriosis.

Investigation and Legal Action

Courtney is now pursuing legal action through a medical negligence claim. The case has also drawn attention from regulators, with investigations underway into Gordon’s conduct.

Australia’s federal health minister Mark Butler described the allegations as “physically sickening”.

For Courtney, the emotional impact remains overwhelming.

“No woman should ever have to endure what I’ve endured,” she said. “I’ve had the opportunity to have a family taken away from me.”

Your DNA, or more specifically your genes, have fascinating interactions with your diet. These interactions are often bidirectional and form the basis of personalized nutrition through genomic biohacks.

This has impressive applications in solving some of the most stubborn health related challenges, including undesirable weight gain and obesity.

Here are the five ways by which your DNA could positively shape your diet:

Nutrigenomics

Nutrigenomics is the mechanism by which your diet affects your genes, and not the other way round. The process has massive implications for your health, and especially over how you can use specific dietary components to protect yourself against serious killer diseases like cancers and issues like faster aging.

Deficiency in key nutrients like Vitamin B9 or folate, Vitamin B12, choline & methionine can cause genomic instability and increased cancer risk.

In contrast, specific foods like curcumin, resveratrol, green tea, broccoli, Brussels sprouts etc can help with genomic stability and help fight inflammation, oxidative stress and cancers.

Nutrigenetics

These are the processes by which your genes affect your diet or consumed food and hence central to our theme here. At times, nutrigenetics is referred to by the wider umbrella term nutrigenomics.

Your gene variants determine how you process specific nutrients, which explains why the same diet works differently for different people. Genetic tests like Eplimo can easily find this out.

For instance, presence of certain variants of the SGK1 gene make those individuals more prone to high blood pressure from salt intake.

Similarly, variants in the FTO gene are strongly linked to obesity risk. Other very common examples are variants in the CYP1A2 gene that determine how fast you metabolize caffeine and mutations in the LCT gene that determines whether you are at risk of lactose intolerance.

Hunger & Satiety Hormones

Ghrelin, the hunger hormone, is produced mainly in the stomach and stimulates appetite, increases food intake as well as promotes fat storage.

The production of ghrelin hormone is governed by the GHRL gene, and a common variant in this gene called RS696217 is associated with unnecessary hunger and higher obesity risk.

Similarly, leptin is a hormone produced by the body’s fat tissues and regulates satiety or the feeling of fullness with regard to food.

Production of leptin is governed by the LEP gene, while its utilization is controlled by the LEPR (leptin receptor) gene. Variants in either, especially LEP, can cause severe, early-onset obesity.

Metabolic Pace

Genes play a significant role in determining your metabolic pace. Studies show that genes account for up to 60 percent of the variations seen in the Resting Metabolic Rate between individuals.

RMR is basically a measure of how much calories are burnt while you are sitting or doing light activities.

It is different from Basal Metabolic Rate (BMR) that requires fasting and bed rest. Hundreds of genetic variants work together to set your RMR.

These include variants in the UCP1 gene governing thermogenesis or heat production, the MC4R gene that influences how the body burns nutrients for energy, and genes governing mitochondrial efficiency.

Building more muscles is a proven way to counter the negative impact of such variants and boost RMR.

Gut Microbiome

Does your gut microbiome impact your genes more, or does your genes impact your gut microbes more? Definitely, it is the former, which is also a better known mechanism due to that greater impact.

But that doesn’t mean that the reverse impact, from your DNA to your microbiome which accounts for around 10 percent of its composition, is insignificant in any way.

For instance, your specific gene variants determine which bacteria thrive by influencing immune responses, metabolism, and food preferences.

Specific genes, such as the LCT gene, directly correlate with the abundance of beneficial bacteria like Bifidobacterium. Genetics also influence how you digest food and your dietary preferences, which in turn feeds specific bacterial species.

Other genetic factors too have been identified as having strong links to microbial diversity, which is a great marker for not only gut health, but overall health, performance and longevity.

The impact of social media on adolescents’ well-being is significant, said the World Happiness Report 2026 today, warning that the scale of harm is significant enough to affect entire populations.

The annual report, published by the Wellbeing Research Centre at the University of Oxford, points to overwhelming evidence of both direct and indirect harm.

Direct harms include exposing them to videos of graphic pornography and real-life violence, facilitating cyberbullying and deepfakes, promoting dangerous “challenges”, connecting them with sexual predators, and facilitating the purchase of illegal drugs.

The indirect harms involve rising levels of depression, anxiety, and reduced life satisfaction.

“The harms and risks to individual users are so diverse and vast in scope that they justify the view that social media is causing harm at a population level,” the report said.

The harmful "experiences are so common that they should also count as ordinary use,” it added.

Notably, the report called the major social media platforms such as Facebook, Instagram, Snapchat, TikTok, and X, "dangerous consumer products that harm adolescents at a massive scale”.

“The evidence of harm – both direct and indirect – is so strong and comes from so many sources in so many countries that we believe policymakers around the world now have enough evidence to justify action to protect children and adolescents,” the report said.

In line with this, countries such as Australia and Indonesia recently introduced legislative restrictions on social media use among young people. In India, states including Karnataka and Andhra Pradesh have announced bans, while Bihar is considering similar measures.

The report pointed out that social media is causing direct harms to millions of people globally. This includes:

• Addiction and problematic use
• Sleep deprivation
• Sextortion
• Sexual harassment

Impact on Youth Well-being

Research cited in the report shows a clear link between heavy social media use and lower life satisfaction among adolescents. Youth and teens who spent more time on social platforms reported poorer mental well-being compared to those who used less.

Overall, internet use was linked with negative effects, particularly among girls and in countries such as the UK and Ireland. Yet, among those who used the internet for communication, learning, news consumption, and content creation, higher life satisfaction was reported.

The report noted that negative emotions are becoming more common across all regions. Worry increased among young people, while the frequency of anger declined across both younger and older populations.

Despite these trends, positive emotions still occur about twice as often as negative ones globally.

Global Happiness Rankings

Finland has been ranked the world’s happiest country for the ninth consecutive year, followed by Iceland, Denmark, and Costa Rica. Other countries in the top 10 include Sweden, Norway, the Netherlands, Israel, Luxembourg, and Switzerland.

In contrast, when measuring changes in happiness among people under 25, countries in the NANZ region -- the United States, Canada, Australia, and New Zealand -- rank much lower, placing between 122 and 133 out of 136 countries.