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.

William, the Prince of Wales, has yet again voiced out concerns about mental health in males, which is often a neglected topic. He also opened up about his emotional struggles and urged men to speak out to normalize the issue.

Speaking to BBC Radio 1, William said it has taken a " long time” for him to understand his “emotions”.

"Learn to love yourself and understand yourself. I take a long time trying to understand my emotions and why I feel like I do, and I feel like that's a really important process to do every now and again, to check in with yourself and work out why you're feeling like you do," said the Prince of Wales.

He emphasized the "need for more male role models" who can speak about their mental health publicly.

"We need more male role models out there, talking about it and normalizing it, so that it becomes second nature to all of us."

"It's OK to ask for support, ask a mate, reach out," said William.

It is not the first time that the Prince has spoken about mental health. Earlier, he stated that people must "relax a little bit and be able to talk about our emotions because we're not robots".

Men And Mental Health

Compared to women, men are known to be less likely to seek help for mental health issues. Driven by stigma, reluctance to seek help, and societal pressures regarding masculinity, men are also more likely to die by suicide.

As per a recent study by The Institute for Health Metrics and Evaluation, University of Washington, US, males die from suicide at twice the rate of females. Their attempts also result in death three times more often than female attempts.

A 2020 paper by the World Health Organization (WHO) identified self-reliance, difficulty in expressing emotions, and self-control as the key sociocultural barriers to men’s help-seeking about masculinity norms.

The National Institute of Mental Health attributed genes, a family history of depression, environmental stress, including financial problems, the loss of a loved one, work problems, a difficult relationship, a major life change, or a stressful situation as major reasons for a decline in mental health in men. Medical conditions like diabetes, heart disease, or cancer are also known to raise the risk of depression in men.

Further, substance use, loneliness, and shame are also contributing factors to the elevated suicide rates among men.

While men and women develop most of the same mental disorders, their symptoms may be different. Some common symptoms among men include:

Anger, irritability, or aggressiveness

Prominent changes in mood, energy level, or appetite

Difficulty sleeping or sleeping too much

Difficulty concentrating, feeling restless, or on edge

Misuse of alcohol, drugs, or both

Many packaged baby foods marketed as healthy may contain hidden sugars and ultra-processed ingredients that can shape a child’s taste preferences and long-term health.

Brightly packaged baby cereals, fruit pouches, snack puffs and flavored yoghurts use “natural”, “organic” and “doctor recommended” labels to advertise their nutritional value and reassure parents.

“What shocked me was the top ingredient in 71% of these baby foods wasn’t a fruit or vegetable, it was one or more additives,” said Dunford, who is also a consultant at The George Institute for Global Health.

However, packaged baby food is instead packed with artificial additives and highly processed components such as carrageenan, xanthan and guar gum.

Why Ultra Processed Baby Foods?

The majority of packaged baby foods are classified as ultraprocessed because they undergo extensive industrial manufacturing and contain ingredients rarely found in a home kitchen.

Rather than using whole, simple foods, many manufacturers rely on heavy processing steps that strip away natural nutrients.

Key Indicators of Ultra Processed Food

Refined Bases: Many ready-to-eat snacks, like puffs, use refined starches and flours as their primary ingredients instead of whole grains.

Not Real Whole Fruit: Many brands often claim whole fruit however; they only provide taste and sweetness without the beneficial fiber and nutrients of the original fruit.

Hidden Sugars and Fillers: Products like flavored cereals frequently contain maltodextrin, added sugars and flavor enhancers to improve palatability.

Industrial Additives: To ensure shelf stability and consistent texture, these foods are often loaded with stabilizers, preservatives, and emulsifiers.

Which Additives That Parents Should Know About?

Even when a product claims to have "no added sugar," it can still be packed with sweeteners. Manufacturers frequently use fruit juice concentrates, corn syrup solids and glucose-based ingredients to enhance flavor.

These concentrated sugars train a baby’s developing palate. Early exposure to intense sweetness can create a lifelong preference for sugary foods, increasing the risk of poor dietary habits in adulthood.

2. "Natural Flavors"

The term "natural flavor" is often misunderstood. While the origin of the flavor must be a natural source, the final additive is often heavily modified in a laboratory.

These substances are engineered to make processed food taste more appealing than it naturally would, which can distort a child's appreciation for the taste of whole, fresh foods.

3. Stabilizers and Gums

To ensure a product looks perfect after sitting on a shelf for months, companies add stabilizers and industrial gums.

These additives create a permanent, uniform texture that prevents the food from separating or changing consistency during storage.

How To know If Baby Food Is Ultra Processed?

Hidden sweeteners: Sweeteners like dextrose, glucose syrup, malt extract, and corn solids are just fancy names for Sugar.

Go For Shorter lists: Avoid long lists of chemical sounding names.

Why Does Early Nutrition Matter?

Nutritious food: Babies require high nourished foods high in vitamins, minerals, healthy fats, and proteins rather than just calories.

Freshness: Fresh consistently provide higher levels of essential nutrients compared to any packaged or processed product.

Palate Programming: This stage establishes a child’s lifelong food habits. Processed baby foods can systematically eliminate whole food choices by training the child to prefer artificial textures and flavors.

Adulthood: Early nutrition is a key pillar of foundational health; the quality of food a baby eats now sets the biological template for their health in adulthood.

How To Give Baby Nutritional Food?

Natural Choices: Simple combinations such as mashed fruits, steamed vegetables, dal, khichdi, and curd provide essential nutrients without artificial components.

Minimal Processing: If buying packaged, choose single-ingredient products, plain vegetable purees or unsweetened cereals to avoid hidden flavors.

NOTE: A shorter ingredient list is always the safest and healthiest choice for your child.

Endometriosis is traditionally defined by the presence of tissue similar to the lining of the uterus, the endometrium growing in locations where it doesn't belong, such as the fallopian tubes, ovaries and pelvic cavity.

Since this tissue is hormonally responsive, it bleeds and causes inflammation during a menstrual cycle.

While experts have long categorized this as a condition solely affecting women, rare clinical cases have shattered this assumption and revealed that the biological blueprint for endometriosis exists in the male body

as well.

What Causes Endometriosis?

• Retrograde menstruation: Fallopian tubes and into the pelvic cavity instead of out of the body. These cells may stick themselves to the inner pelvic lining and organs from where they multiply.

• Transformed peritoneal cells. Hormones or immune factors might transform cells that line the inner side of the abdomen, called peritoneal cells, into cells that are like those that line the inside of the uterus.

• Embryonic cell changes. Hormones such as estrogen may transform embryonic cells in the earliest stages of development into endometrial-like cell growths during puberty.

• Surgical scar complication. Endometrial cells may attach to scar tissue from a cut made during surgery to the stomach area, such as a C-section.

• Endometrial cell transport. The blood vessels or tissue fluid system may move endometrial cells to other parts of the body.

• Immune system condition. A problem with the immune system may make the body unable to recognize and destroy endometriosis tissue.

What Are Symptoms Of Endometriosis?

• Severe Abdominal Pain
• Bloating
• Painful periods
• Pain with sex
• Pain with bowel movements or urination.
• Excessive bleeding
• Infertility
• Fatigue
• Diarrhea
• Constipation
• Nausea

How Does Endometriosis Develop In Men?

They help in the formation of the uterus, cervix, fallopian tubes and upper vagina. However, men develop the Anti Mullerian Hormone, also known as AMH which regresses the formation of these ducts.

Men can develop the ducts when exposed to estrogen. Typically, those who are undergoing prostate cancer treatment, hormone replacement therapy or suffering from obesity take estrogen.

Consistent exposure to estrogen can actually transform those inactive cells or remnants of Mullerian Ducts into endometriosis tissues and pave the way for the development of the disease.

How Common Is Endometriosis?

While the disease is almost diagnosed in women, documented cases in men confirm that they hold the biological potential to develop endometriosis.