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.

An interesting yet alarming trend is being observed in people who are losing weight with Mounjaro, loose skin, or popularly known as Mounjaro Face.

Post Mounjaro/Ozempic, many patients are now reporting a face that’s saggy or making them look 10 years older.

Mounjaro Face

Neha, a 34-year-old MNC executive who came to us saying, “Doc, now that I have Zoom calls and everything, I’ve lost almost 20–30 kgs in the last 9 months. My weight has plateaued, but one thing I have noticed is that I have that ‘Mounjaro/ Ozempic face,’ which I read in one of the newspaper articles.”

“Ozempic face” or “Mounjaro face” is becoming pretty common nowadays. The problem lies in the fact that the facial volume has been reduced.

The looseness of the skin accentuates the effects of weight loss. It also depends on the age and genetics of an individual. Usually, patients who are taking high doses of Mounjaro and have lost significant weight in a short span are more susceptible to facial changes like looseness of skin and loss of volume.

Why Does It Happen?

Mounjaro or Ozempic are semaglutides, which are GLP-1 agonists that act on the body to deplete body fat. It also has an impact on facial compartments, which have facial fat, include superficial and deep fat that support the face.

When these compartments are depleted of fat, it shows as hollowness, especially in the under-eye region or the cheek region. You may have a sharp jawline, but with saggy skin.

After 40 years, older patients have less collagen and elastin, so they adapt poorly to fat loss and therefore, the extent can be prominent. Also, faster weight drops with a slimmer baseline face are affected more by it.

Vitamin, mineral, and protein deficiency, along with dehydration, can be contributory factors.

How Can I Prevent It?

Well, if you are on Ozempic or Mounjaro-like drugs, make sure your protein intake is adequate. Most doctors would like to keep it around 1.5 g to 2 g per kg body weight, depending on the patient’s health condition.

Another crucial aspect is strength training, especially to maintain muscle mass.

Essential intake of supplements like vitamins, minerals, and collagen can also help in maintaining skin structure.

If you’re experiencing early laxity of the skin, like early skin looseness or prominent nasolabial lines, then radiofrequency, MIcroneedling, HIFU, and similar technologies might work.

In some cases, fillers and threads can help you, but these are not long-term measures.

In cases where there is loss of complete elasticity, the treatment remains surgical, which, depending on the extent, can be a full or mini facelift. In this, not only is facial skin tightened, but also the deeper muscle layer is tightened. To restore the volume, many patients opt for facial fat transfer, where the body’s own fat can be used to augment lost volume in the face.

Confidence And Self-esteem

Confidence is not just about losing weight; it’s also about regaining your self-esteem.

Whenever someone is on Mounjaro or Ozempic, it is pertinent to take care of all the other factors and make sure it is properly monitored, so that your skin doesn’t sag and you don’t look older.

Metabolism-Associated Fatty Liver Disease (MAFLD) — also termed Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) — is defined by excess hepatic fat accumulation (>5 per cent of liver weight) in the presence of metabolic dysfunction, independent of alcohol intake. It encompasses a spectrum from simple steatosis to steatohepatitis, fibrosis, cirrhosis, and hepatocellular carcinoma.

MAFLD: Epidemiology In India

A Lancet Regional Health study found that approximately 39 per cent of Indian adults screened had fatty liver disease, making it one of the most prevalent chronic liver conditions in the country. Within India, prevalence shows regional variation driven by genetic, dietary, and socioeconomic factors.

A particularly important feature is the “lean MAFLD” phenotype — South Asians often develop fatty liver at a lower BMI due to disproportionately high visceral fat, which complicates detection based on conventional BMI screening. Currently, MASLD is the commonest cause of liver cirrhosis and hepatocellular carcinoma (HCC).

MAFLD: Causes And Risk Factors

The core drivers are components of metabolic syndrome: type 2 diabetes mellitus, obesity (particularly central adiposity), dyslipidemia, hypertension, and insulin resistance. MASLD is strongly linked to obesity, sedentary lifestyles, and metabolic syndrome.

Genetic susceptibility also plays a role — variants in genes such as PNPLA3 are associated with increased liver fat accumulation, particularly in certain Indian populations. Rapid dietary transition towards ultra-processed, high-calorie foods compounds the risk.

MAFLD: Investigations

Routine liver function tests may appear normal in early stages, and an ultrasound detects only moderate-to-severe fat accumulation. A structured approach includes:

• Blood tests: LFTs, fasting glucose, HbA1c, lipid profile, insulin resistance indices
• Ultrasound abdomen: First-line imaging for steatosis
• FibroScan (Transient Elastography): Liver stiffness measurement (LSM) and controlled attenuation parameter (CAP) are standardized non-invasive tools for assessing fibrosis and steatosis.
• Liver biopsy: Gold standard for staging steatohepatitis and fibrosis when non-invasive tests are inconclusive.

MAFLD: Treatment

No approved pharmacotherapy exists exclusively for MAFLD; management is lifestyle-centred:

• Weight loss: 7–10 per cent body weight reduction significantly reduces hepatic steatosis and inflammation
• Diet: Mediterranean-style diet; restrict refined carbohydrates and saturated fats
• Exercise: Both aerobic and resistance training improve insulin sensitivity and liver fat
• Metabolic comorbidity control: Optimise glycaemia (GLP-1 agonists show hepatic benefit), manage dyslipidaemia and hypertension
• Emerging therapies: Resmetirom (thyroid hormone receptor-β agonist) has shown promise in MASH with fibrosis.

Once known to affect only people over 60, Parkinson’s Disease is now increasingly being seen in young adults, especially at the age of 40, said health experts on World Parkinson’s Day today.

World Parkinson’s Day is observed every year on April 11 to raise awareness about the brain condition that causes tremors, slowness of movement, and trouble walking.

Parkinson’s is a progressive and neurodegenerative movement disorder caused by the loss of dopamine-producing brain cells.

Progressive decline in mobility is a key issue among Parkinson's patients, impacting their independence and quality of life. Other problems include slow movement, tremor, imbalance, cognitive impairment, mental health disorders, sleep disorders, and pain.

Also read: World Parkinson's Day 2026: Origin, Theme And Global Burden

Young-onset Parkinson’s Disease

According to the American Parkinson's Disease Association, a diagnosis of Parkinson’s between the ages of 21 and 50 is referred to as early-onset Parkinson’s disease, or young-onset Parkinson’s disease (YOPD).

Exposure to environmental toxins and lifestyle changes are major reasons for the rise in Parkinson's in this group.

While the symptoms of the disease are mostly the same at whatever age it develops, younger people will experience the disease differently due to their unique life circumstances. Managing the disease can be particularly challenging for a younger person and their family from a medical, psychological, and social standpoint.

"There is a perceived increase in younger-onset Parkinson’s in India. Possible reasons include better awareness and diagnosis (more neurologists, improved access to care), environmental exposures (pesticides, heavy metals), and air/water pollution. Lifestyle (sedentary habits) and urbanization-related factors may also contribute," Dr Sudhir Kumar, Neurologist at Apollo Hospitals Hyderabad, told HealthandMe.

A 2022 study, published in NPJ Parkinson's Disease, showed that the incidence of Parkinson’s disease, or the number of new cases diagnosed per year, is 50 per cent higher than previously estimated.

Instead of past estimates of 60,000 new cases of Parkinson’s disease diagnosed per year, the study determined that there are approximately 90,000 new cases of Parkinson's disease diagnosed in the US per year.

"Young-onset Parkinson’s disease (YOPD) is on the rise, mainly in the middle socio-demographic index. These countries include India, China, and some Southeast Asian countries," Dr Paresh Doshi, Director of Neurosurgery and Stereotactic & Functional Neurosurgery at Jaslok Hospital and Research Centre.

"According to one research paper, the age-standardized incidence rate has been rising at an alarming rate of 1.4 per cent per annum. To put it in perspective, if the incidence was 100/10,00,000 in 1995, it would be 153/10,00,000 in 2026," he added.

The experts noted that, along with the rising disability burden, mortality is reducing. The compound effect of all these is a larger number of YOPD patients suffering longer. Surgeries like deep-brain stimulation can help reduce these disabilities significantly.

Checklist for Parkinson’s: Signs You Should Not Ignore

Early recognition is critical, as many symptoms precede motor features by years.

Common early signs include:

• Reduced sense of smell (anosmia)
• Slowness of movement (bradykinesia)
• Reduced arm swing while walking
• Resting tremor
• Masked facies (reduced facial expression)
• Change in handwriting (micrographia)

Other important symptoms, which are often overlooked:

• Constipation
• Sleep disturbances (especially REM sleep Behavior disorder)
• Depression or anxiety.