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.

In my 13 years of working with clients as a trauma-informed consulting psychologist, I have often noticed that people recognise nervous-system overload only after their body forces them to slow down.

Until then, they may describe themselves as “too sensitive”, “lazy” or “unable to cope”. In reality, these reactions are often the nervous system’s attempt to protect us.

Fight, Flight, Freeze Or Shutdown

Our nervous system continually assesses whether we are safe. When stress feels persistent or overwhelming, the body may move into fight or flight.

We might become irritable, restless, anxious or unusually controlling. The heart may race, muscles tighten and sleep become disturbed. At other times, the system may shift towards freeze or shutdown, showing up as exhaustion, emotional numbness, procrastination, forgetfulness or a strong desire to withdraw.

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When Everyday Reactions May Signal Overload

For example, someone who becomes disproportionately angry over a minor delay may not simply have an “anger problem”; their system may already be carrying days or months of accumulated stress. Another person may sit before a simple email for hours, unable to respond.

What looks like avoidance may actually be a freeze response. Some people remain highly productive while feeling disconnected from their bodies, until headaches, digestive difficulties or fatigue begin demanding attention.

These signs do not automatically indicate trauma or a mental health condition. They are invitations to become curious: What has my system been carrying? When did I last feel rested, supported or genuinely safe?

Small Ways To Help The Body Feel Safer

If you notice these patterns, begin gently. Reduce unnecessary stimulation, eat regularly, protect your sleep and spend time with people around whom you do not have to perform. Slow breathing—particularly allowing the exhale to be longer—may help signal safety. You can also look around the room, notice your feet on the floor and name what you can see and hear. Small, repeated experiences of safety are often more helpful than forcing yourself to “calm down”.

If symptoms persist, interfere with daily life or feel difficult to manage alone, speaking with a trauma-informed therapist can help you understand the patterns beneath them. Therapy is not only for moments of crisis; it can offer a safe space to listen to what the nervous system has been communicating all along.

The body is rarely working against us. Often, it is asking for care in the only language it knows.

By Ms Arouba Kabir, Psychologist & Therapist, Founder - Enso Wellness

Someone who is dying may start to their loved ones who passed away years ago. This could be unsettling and confusing for families and relatives who may assume that the person is just hallucinating or undergoing a deeper neurological issue.

But hospice physician Dr Christopher Kerr says such experiences are a known phenomenon called end-of-life dreams and visions (ELDVs). Kerr, chief medical officer of Hospice Buffalo, has spent decades studying these experiences in dying patients extensively.

Appearing on The Oprah Podcast, he told Oprah Winfrey that many patients near death describe seeing deceased relatives or people who cared for them during their lives. The experiences can feel completely real to them.

Why Do People Near Death See Deceased Loved Ones?

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One of the possibilities is that the brain experiences significant changes as the body starts to shut down.

Alterations in sleep, consciousness, metabolism, oxygen levels, medications, and brain chemistry can all affect perception during the final stages of life.

Dr. Rakesh Lalla, Additional Director - Neurology, Fortis Hospital, Mumbai, told HealthandMe, " These visions could be explained by the alterations that occur within the brain as the body starts to close down. Due to oxygen deprivation and altered brain activity, the brain would process memories, feelings, and stimuli differently. The areas responsible for memory processing and vision could become stimulated or disrupted, which could result in some vivid visions or experiences."

The expert also said that these visions do not mean that the person has a neurological or psychiatric issue.

Dr. Lalla said, "They do not necessarily mean that the person is confused or suffering from a psychiatric condition. In many cases, they are brief, peaceful, and emotionally meaningful to the individual. We still do not fully understand why particular people or memories appear."

The neurologist also advised families to stay supportive and calm during such situations.

He added, "The brain’s complex relationship between memory, emotion and perception is likely to play an important role. For families, the key is to remain calm, listen without dismissing the experience, and provide reassurance and comfort."

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Hallucinations Or Part Of The Dying Process?

Experts who have been studying ELDVs have also found that these experiences have some distinctive patterns that do not resemble random hallucinations.

In a 2014 longitudinal study led by Kerr, most of the 59 hospice patients who completed the study reported at least one dream or vision. Almost half occurred during sleep, and nearly all patients said the experiences felt real. The most common involved deceased friends or relatives or other loved ones. In fact, comforting visions of deceased people became more common as patients moved closer to death.

A 2026 systematic review of 13 studies similarly found that ELDVs occurred in at least one in five dying adults.

The National Institute on Aging also states that dying people may appear to see or talk to someone who is not present and may report dreams involving deceased relatives or friends. Such experiences are often comforting, and caregivers are generally advised not to immediately correct or challenge the person.

Seeing Loved Ones Could Be A Comforting End

Kerr said that patients seeing deceased loved ones in their visions appeared calmer afterward. His research suggests that these experiences may carry deep emotional meaning for patients.

“Very little is said between the person in the dream and the dreamer, but everything seems to be understood,” Kerr told Oprah.

Scientists still cannot say exactly what produces these experiences or whether they represent anything beyond changes occurring in the dying brain.

India accounts for one-fifth of global deaths due to cardiovascular diseases (CVDs) or complications related to the heart and blood vessels. Moreover, women are more vulnerable to these complications. Recent data show that women (14%) have a higher prevalence of CVD than men (12%), making preventive care very important for all.

When Should A Heart Check-up Be Done?

The human heart works constantly and efficiently and can compensate for metabolic stress and narrowing of blood vessels without showing any obvious symptoms. Hence, a heart health evaluation should ideally take place when the person is feeling completely well, long before any warning signs appear.

While acute symptoms, such as chest pressure or tightness, unexplained breathlessness, fainting, or unusual fatigue on effort, demand immediate attention, true heart protection occurs through early and planned tests. While heart check-ups are routinely recommended starting at age 40, screening should ideally begin earlier, around ages 30 to 35, especially if risk factors are present.

Starting check-ups at age 30 is important because certain congenital and structural heart conditions remain completely silent for years, and early screening ensures timely, targeted treatment when it is most effective.

Regular screening helps detect and rule out underlying issues early, including congenital heart defects (commonly known as holes in the heart) and conditions such as Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), or Patent Ductus Arteriosus (PDA). Structural and muscle diseases, on the other hand, include valve disorders, heart muscle weakness, or abnormal thickening of the heart walls (e.g., Hypertrophic Obstructive Cardiomyopathy (HOCM)).

Key Risk Factors

In addition to age, patients should seek a heart check-up sooner if they have any of the following risk factors:

• Strong family history of premature heart disease in immediate relatives.
• History of active or past smoking and tobacco use.
• Metabolic conditions such as diabetes, hypertension, or elevated blood cholesterol.

Excess body weight, especially central or abdominal obesity. Excess body weight damages the kidneys, leads to fat deposits in the liver and increases the risk of developing diabetes, and ultimately increases the strain on the heart and blood vessels (cardiovascular system). These interconnected conditions are known as Cardiovascular-Kidney-Metabolic (CKM) syndrome and include heart disease, kidney disease, diabetes, stetotic (fatty) liver disease, and obesity.

Effective weight and metabolic management, through modern options such as oral or injectable GLP1 therapies, can improve long-term heart health.

Tailoring care

A heart check-up can involve several tests, from blood tests to invasive or non-invasive ones (with/without needles, catheters, or probes entering the body). The most common blood tests include fasting and post-prandial or after-meal blood sugar (FBG/PPBG), HbA1c (glycated haemoglobin), lipid and thyroid profile, and kidney function tests. Non-invasive cardiac tests include electrocardiogram (ECG), 2D echocardiogram, and ultrasound. However, not everyone needs all of them.

Diagnostic tests should be customized based on the person’s age, symptoms, and individual risk score. Hence, skip the urge to self-order commercial diagnostic packages online. Instead, take the most important step towards protecting your heart by talking to your doctor. A personalized assessment can help determine which tests, if any, are appropriate for you, so that you can focus on the right steps to keep your heart healthy.