What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

Updated Feb 7, 2025 | 08:00 AM IST

SummaryAlkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, cartilage damage, and skin discoloration. It has no cure but can be managed.
What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why

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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.

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.

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After Ozempic, Wegovy And Other GLP-1 Drugs, More US Men Opt for Cosmetic Treatments

Updated Sep 1, 2026 | 06:00 PM IST

SummaryAccording to the American Society of Plastic Surgeons, men underwent 1.7 million cosmetic procedures in 2024, including surgeries and minimally invasive treatments such as laser skin resurfacing and Botox injections.
After Ozempic, Wegovy And Other GLP-1 Drugs, More US Men Opt for Cosmetic Treatments

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With the increasing accessibility of GLP-1 weight-loss drugs such as Ozempic and Wegovy, more people are shedding pounds. But the transformation can come with its own caveats — sagging skin, hair loss and dental issues that may require further attention.

And if you thought women were the only ones taking the plunge, think again.

While women still account for the overwhelming majority of aesthetic treatments, demand among men in the US has risen in recent years, particularly among those who have undergone significant weight loss through GLP-1 therapies.

More US Men Seek Cosmetic Treatments

According to the American Society of Plastic Surgeons, men underwent 1.7 million cosmetic procedures in 2024, including surgeries and minimally invasive treatments such as laser skin resurfacing and Botox injections. That was a 2.7% increase from the previous year.

Of the total, more than 98,000 were surgeries, with eyelid surgery, liposuction and tummy tucks among the most commonly performed procedures.

“I’ve seen probably a doubling in the number of male patients that I treat over the last one to two years,” Sean Alemi, a New York-based facial plastic surgeon, was quoted as saying to Reuters.

Also read: Lehengas, Diets & Now Mounjaro: The New Must-Have For Indian Brides?

Experts say demand will keep rising as more weight-loss drugs, including new pill versions, reach the market.

In the first quarter of 2026, nearly 70% of men who underwent surgical procedures had a history of GLP-1 use, Dr. Bob Basu, president of the American Society of Plastic Surgeons, said.

Younger men often seek procedures to remove loose skin and improve the appearance of an athletic physique, while older men are focused on signs of aging, particularly in the face and neck, doctors said.

Rapid Weight Loss May Affect Surgical Outcomes

Read More: GLP-1 Drugs Making You Lose Muscle Along With Fat? Scientists Discover Game Changing Weight-Loss Compound To Tackle It

The growing popularity of GLP-1 drugs has also created a new generation of body-contouring patients, along with new challenges for plastic surgeons, according to recent research by Duke University.

The research suggests that how much weight patients lose — and how quickly they lose it — could affect surgical results when tightening or removing excess skin after massive weight loss.

For the study, published in Plastic and Reconstructive Surgery, Duke researchers analyzed more than a decade of abdominal body-contouring procedures, such as tummy tucks, and found that patients who lost large amounts of weight quickly faced higher risks of surgical complications.

The more than 500 patients studied were grouped based on how they lost weight: through bariatric surgery alone, GLP-1 medications such as semaglutide and tirzepatide alone, or a combination of both.

The highest complication rates were seen among patients who combined surgery with GLP-1 drugs that reduce appetite. These patients not only lost the most weight overall — about 29% of their body weight, compared with 10% among GLP-1 users — but did so at the fastest rate.

A New Challenge for Plastic Surgeons

But those rapid changes may come with tradeoffs, said senior study author and professor of surgery Ash Patel, MBChB, a plastic and reconstructive surgeon at Duke Health.

“These are highly effective weight-loss tools, and they are changing the patient population we see in body contouring,” Patel said. “We’re operating on people whose bodies have undergone rapid, profound changes, and that affects healing.”

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Can You Live With One Kidney? And Other Organ Donation Questions People Are Too Afraid To Ask

Updated Sep 1, 2026 | 02:30 PM IST

SummaryLiving with one kidney is generally possible, but organ donation involves careful medical evaluation, long-term monitoring and understanding potential risks before and after donation.
Can You Live With One Kidney? And Other Organ Donation Questions People Are Too Afraid To Ask

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Kidneys are two bean shaped structures, located on the back side of the abdomen, one each on right and left side. It filters blood by removing waste products via urine. Besides this it also functions as an endocrine organ, producing hormones like renin (for blood pressure control), erythropoietin (for hemoglobin production) and aids in active vitamin D formation (for bone health).

Though human beings have two kidneys usually, there are situations where individuals can lead a healthy life on one kidney. This could be developmental anomaly (since birth). Congenital absence of one kidney is called renal agenesis, and these individuals lead a normal life with normal kidney function.

Sometimes, a single kidney is acquired due to removal of one kidney for donation. As in a healthy donor gives their kidney to someone in need, whose both kidneys have failed. This is indeed a noble gesture and one that does not come with any significant impact on the donor’s quality of life.

Can You Live With One Kidney After Donation?

Also read: When a Fever Is More Than a Fever: Recurrent UTIs in Children Can Put Kidneys at Risk

The process of organ donation, where a healthy person’s healthy kidney is removed for the therapeutic purpose to benefit another individual suffering from kidney failure, is called donor nephrectomy. The first such surgery was done in the USA in the year 1954, with open surgery.

Now a days, most donor nephrectomies are done either with laparoscopy (key hole surgery) or robot assisted. Thus, a question that often arises in such times is, whether one can live with one kidney after kidney organ donation? To understand this, one should first understand that a donor undergoes a thorough rigorous fitness evaluation to determine if kidney donation is viable.

During this evaluation process, kidney function of both kidneys are evaluated. The kidney donor is deemed fit to donate the kidney only after it is ascertained that the donor has two healthy kidneys free from any disease, and the donor would be able to lead a normal life with one kidney. it is also ascertained that the other kidney transplanted in another is also having good kidney function to survive in the recipient.

What Happens To The Donor After Kidney Donation?

Another commonly asked question that doctors often get is, what happens to the kidney donor with one kidney after donation? Most kidney donors live long healthy life after organ donation. However, it should be appreciated that every individual is different, and age at the time of organ donation matters a lot. Risk is generally low, and they carry out their regular activities as before. Rarely the donor has a slight chance of developing high blood pressure or protein leak in the urine.

However, overall risk of significant kidney disease is <1%, which is considered less than having the similar risk in general population. Though, there may be slightly higher chances of developing high blood pressure during pregnancy in a kidney donor. However, in majority of cases, Kidney donation is generally a safe procedure, and most donors continue to lead healthy, active lives with one kidney. With appropriate long-term follow-up and healthy lifestyle choices, donors can maintain excellent kidney health after donation.

By Dr. Hemant Mehta, Consultant Interventional Nephrologist, Lilavati Hospital and Research Center, Mumbai

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When Common Health Conditions Tell A Bigger Story: The Hidden Link Between Endometrial Cancer And Metabolic Diseases

Updated Aug 31, 2026 | 01:00 PM IST

Summary​For women, maintaining a healthy weight, staying physically active, managing metabolic conditions effectively and paying attention to unusual symptoms can all form part of a broader approach to preventive health.
When Common Health Conditions Tell A Bigger Story: The Hidden Link Between Endometrial Cancer And Metabolic Diseases

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Common metabolic conditions such as obesity and diabetes are increasingly becoming a serious public health concern in India. Their health implications extend beyond the conditions themselves, with obesity and diabetes associated with a range of chronic diseases and complications that can affect long-term health and wellbeing. As lifestyles become more sedentary and the prevalence of these conditions continues to rise, understanding their wider implications on women’s health is becoming increasingly important.

What many women may not realize is that this metabolic burden can carry a deeper, less visible consequence one that reaches into the domain of gynecological cancer.

One such concern is endometrial cancer. A form of uterine cancer, it develops in the lining of the uterus and is becoming an increasingly important health issue globally. Yet, many women remain unfamiliar with the disease, its risk factors, and the symptoms that require prompt medical attention.

The Metabolic Health Connection

Increasing evidence points to a link between metabolic syndrome and endometrial cancer, particularly through conditions such as obesity and diabetes. Excess body weight and metabolic disturbances can disrupt hormonal balance, such as by increasing estrogen production without a corresponding increase in progesterone. Over time, this hormonal imbalance may stimulate abnormal growth of the endometrial lining, increasing the likelihood of cancer development.

Diabetes, too, has been associated with an increased risk. As obesity and diabetes become more prevalent, recognizing these less-discussed consequences is an important part of strengthening women’s preventive health.

For women, maintaining a healthy weight, staying physically active, managing metabolic conditions effectively and paying attention to unusual symptoms can all form part of a broader approach to preventive health.

Watching Out For Unusual Symptoms

One of the most important characteristics of endometrial cancer is that it often presents with abnormal vaginal bleeding. Bleeding or spotting after menopause is one of the most significant warning signs and should never be ignored.

For women who have not reached menopause, heavier-than-normal periods, prolonged bleeding, or bleeding between periods should be discussed with a healthcare professional.

Why Awareness Matters

Improving awareness is important because there is currently no recommended routine screening test for endometrial cancer in asymptomatic women. As a result, recognizing symptoms and seeking timely medical advice are among the most effective ways to support earlier diagnosis.

At the same time, the conversation should not end with cancer awareness alone. As India continues to face a growing burden of obesity and diabetes, prioritizing metabolic health has become increasingly important for overall wellbeing.

Maintaining a healthy weight, staying physically active, eating a balanced diet, and effectively managing conditions such as diabetes can help reduce the risk of a range of serious health complications, including certain cancers. For women, understanding the connection between metabolic health and endometrial cancer can empower more informed decisions about prevention, symptom recognition, and long-term health. By addressing obesity and diabetes early and seeking medical advice when unusual symptoms arise, women can take meaningful steps towards protecting their health at every stage of life.

(By Dr. Shefali Sardana, Medical Oncologist, Apollo Hospitals, New Delhi)

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