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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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From upscale salons to local aesthetic clinics, a quick IV infusion of glutathione is being offered for skin brightening and anti-ageing. But these increasingly popular cosmetic drips may neither be legal nor safe and may carry several health risks, doctors have warned.
Glutathione is an unapproved therapy that involves risks at many levels, including toxins. As per the US FDA, injectable/IV glutathione is not FDA-approved as a safe compounded sterile injectable, carrying high risks of contamination and severe adverse reactions.
In a social media post on X, noted hepatologist Dr Cyriac Abby Philips called out an advertisement for a clinic offering glutathione IV drips, promising skin whitening.
He warned people to “absolutely” avoid it, as the effects on skin may be temporary but carry long-term health risks from kidney to liver dysfunction, and potentially fatal skin reactions.
“Because the body continuously produces melanin, any potential lightening effect is temporary. Once the extreme systemic doses are stopped, the skin's natural pigmentation returns,” Dr Abby said.
Further, he also stated that the procedure is mostly offered by "cosmetologists" or commercialized dermatology clinic chains. As cosmetology is not a recognized medical degree or a protected medical title under the National Medical Commission in India, people claiming to be "cosmetologist" is not really a medical practitioner, but merely certified "coaches" or "wellness experts".
The expert, better known as “LiverDoc” also noted that the clinical evidence supporting IV glutathione is exceptionally poor.
“The administration of IV glutathione in dermatology and cosmetology clinics is a lucrative marketing trend that operates outside the bounds of evidence-based medicine”.
“Marketing claims rely heavily on anecdotal reports and a single, widely criticized trial that suffered from a tiny sample size, poor study design, and unreliable evaluations,” he added.
“Because IV glutathione is not approved for cosmetic use, the solutions utilized in wellness clinics and med-spas are typically sourced from "compounding pharmacies". This bypasses standard pharmaceutical manufacturing regulations, introducing severe risks”.
Dr. Abby explained that a "compounded drug" is a custom medication created by a pharmacist or physician who combines, mixes, or alters ingredients on their own.
He cited how in August 2026, the US FDA issued an urgent safety warning after dozens of patients experienced potentially fatal infection (sepsis)-like symptoms — including fever, chills, low blood pressure, and hospitalization — following glutathione IV treatments.
“Clinics were found to be compounding IV drips using dietary-supplement-grade powder, which contained dangerously high levels of bacterial endotoxins. Administering high doses has been linked to severe adverse effects, including anaphylaxis, acute kidney and liver dysfunction, and potentially fatal skin reactions like Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS and TEN),” Dr Abby said.
In May 2026, the Central Drugs Standard Control Organisation (CDSCO) tightened rules around cosmetic use.
In a new public notice issued, the CDSCO stated that cosmetic products that come in injectable form do not fall under the definition of cosmetics under the law. It said that such products are not permitted for use by consumers, professionals, or aesthetic clinics.
According to the Philippines FDA, given that glutathione affects the production of melanin — the pigment that gives human skin, hair and eyes their colour — there are theoretical concerns about the long-term skin cancer risk.
Other potential risks include transmission of infectious agents, such as HIV, hepatitis C and B. This is of particular concern when a non-medical practitioner administers this treatment or it is done in a non-sterile facility.
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According to the World Health Organization (WHO), hernia repair is one of the most important surgical procedures, with published estimates suggesting that around 20 million hernia repairs are performed each year globally. For most patients, recovery is smooth, steady, and uncomplicated. It is one of the most performed surgeries globally, and for most patients, recovery is steady. Mild pain, swelling, and discomfort during the first few weeks are usually part of the healing process and improve with time. However, when a wound refuses to heal, pain continues to worsen, or there is persistent discharge from the surgical site, these symptoms should never be ignored.
Although complications following hernia mesh repair are uncommon, delayed recognition can make treatment far more challenging. One of the more serious complications occurs when the surgical mesh erodes into surrounding organs, particularly the intestine, leading to infection, chronic wounds and, in rare cases, an entero-cutaneous fistula, an abnormal connection between the bowel and the skin.
A recent patient cases highlights why early medical attention is so important. An umbilical hernia surgery performed years ago led to complications for a 32-year-old lady from Bengaluru. What was supposed to be a simple procedure turned out to be a prolonged medical ordeal for the patient. The injury could not be healed completely, and as time went by, the patient developed persistent drainage from the injury site, which made her daily tasks increasingly difficult.
A further assessment revealed that the mesh had eroded into the bowel and caused an entero-cutaneous fistula. At this point, the surgery was going to be much more complicated than a regular hernia repair. This is a particularly challenging case for surgeons, requiring very detailed planning, since there is always a high probability of finding dense scar tissue and adhesions, which made it impossible to properly detach the bowels.
The surgery was done as a complicated laparoscopic revision operation, during which the adhesions were freed; both meshes were removed, and the part of the bowel that was affected by them was recovered, and the abdominal wall structure was restored. The postoperative period went quite well, and the man was relieved of all the discharge, and his intestinal function was restored within a few weeks.
Such cases may be quite rare, but they send a clear message – never neglect prolonged symptoms, thinking that they are just a part of the recovery process. Hernias are easily repaired, but if healing goes slowly, it is always better to do additional tests to avoid complications.
Signs that might arouse concern about the patient’s condition after the hernia surgery:
1. The wound is not healing properly while waiting for the healing process.
2. The wound is continuously oozing secretions.
3. An unexpected increase in pain in contradiction to the healing phase.
4. Body temperature is above normal or other symptoms of infection are present.
5. An unexpected formation or swelling has appeared in the surgical area.
It should also be mentioned that not everyone suffering from pain after the operation faces a serious complication. However, those with ongoing or worsening health conditions should not perform self-treatment and wait for the issues to resolve.
Advances in minimally invasive laparoscopic surgery have made it possible to successfully manage many complex hernia mesh complications while reducing pain, hospital stay, and recovery time. At the same time, successful treatment depends not only on surgical expertise but also on timely diagnosis and appropriate follow-up.
The goal is not to create anxiety around hernia surgery. Mesh repair remains a safe and effective treatment for most patients. The key message is simple: listen to your body. If your recovery process takes much longer than expected, or there is something that appears abnormal, you should consult with a doctor right away. There are instances where timely action prevents complications and allows for a full recovery.
By Dr. Kiran K. J., Senior Consultant, Department of General, Laparoscopy, GI, Bariatric & Robotic Surgery, Apollo Hospitals, Bannerghatta Road, Bengaluru.
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A globally introduced, newer-generation cataract lens was used in India for the first time, enhancing patient’s recovery journey and treatment outcome
Since her diabetes diagnosis 5 months ago, Mrs Vani Vaish had done what doctors tell every diabetic to do - turn up regularly for an eye exam because diabetes can quietly damage the blood vessels and nerves in your eyes. The eye damage often gives no major noticeable warning until real damage has been done, which is exactly why the screening isn't optional, symptoms or not.
During one of these routine visits, Mrs Ahuja complained of blurring in her vision and increasing glare around headlights and streetlamps at night. Her ophthalmologist identified a cataract. For people living with diabetes, regular eye examinations can be important for more than monitoring diabetic retinopathy, as diabetes can also increase the risk of developing cataracts and may lead to their occurrence at a younger age.
The treatment options were discussed with her in detail, including the potential benefits and limitations of the technology, individual variations in outcomes and the considerations involved in selecting a presbyopia-correcting lens. Following a detailed evaluation, Mrs Ahuja underwent cataract surgery with implantation of the Clareon PanOptix Pro, a newer-generation trifocal intraocular lens that had recently become available in India.
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The significance of the technology lies in what it is designed to change in cataract vision correction. Trifocal lenses split incoming light to provide vision across near, intermediate and distance ranges. The newer-generation optical design used in PanOptix Pro is intended to use available light more efficiently and reduce light scatter — an advancement that aims to support better quality of vision across different distances while addressing some of the visual compromises associated with multifocal lens technology.
Because no two patients have the same visual demands, expanding access to newer technologies plays a critical role in modern care. Our role is to evaluate each patient’s unique needs and ensure that the most suitable and advanced treatments available actually reach the patient, giving them every opportunity for a better quality of life.
The procedure marked the first use in India of the globally introduced Clareon PanOptix Pro lens. For MRs Vaish, the outcome of the treatment has matched what she hoped for. She reports clear vision and no floaters or other visual disturbances. Her recovery has also been smooth, and she has not even needed the temporary protective glasses in the days following the procedure.
Her case highlights two important aspects of modern eye care. Regular eye examinations are important especially for people living with diabetes. A routine screening intended to monitor retinal health can also help identify other conditions affecting vision, including cataracts.
It also demonstrates that access to advanced medical technologies can significantly expand treatment possibilities and enhance the patient's recovery journey. When newer innovations are combined with careful clinical evaluation and personalised decision-making, they can help doctors move beyond a one-size-fits-all approach to treatment and offer patients options better suited to their individual visual needs and lifestyles.
By Dr Sudipto Pakrasi, Chairman, Ophthalmology, Medanta Mediclinic Defence Colony
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