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.

Changes in stride like a slower walking pace, fewer steps or a change in the way your arms move may be considered as signs of ageing. However, an emerging study suggests that minor differences in walking patterns could be subtle, early indicators of Parkinson’s disease. According to the study, these signs can can emerge years before Parkinson's diagnosis.

Published in the Journal of Neural Transmission, the study analysed movement data from more than 73,000 participants in the UK Biobank. Researchers found that certain changes in walking behaviour could indicate a future Parkinson’s diagnosis, surfacing up to 6.8 years beforehand.

The findings indicate that Parkinson’s disease may begin developing long before its more familiar symptoms like tremors and stiffness, become noticeable.

Findings From The Study

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Researchers examined data from 73,413 people who wore wearables that track movement for seven days. Their health records were then followed for up to 10 years. Of the participants without Parkinson’s at the time of the movement assessment, 314 were diagnosed with the disease during follow-up.

Using a digital analysis tool called Watch Walk, researchers examined 17 characteristics related to gait. They identified five walking characteristics that were consistently linked with a subsequent Parkinson’s diagnosis:

• Fewer steps each day: Participants who later developed Parkinson’s recorded lower daily step counts than those who did not.
• Slower walking speed: People who were diagnosed later tended to walk more slowly, including at their maximum walking speed.
• Shorter walking periods: They also spent a lesser amount of their time walking in longer, continuous stretches.
• Changes in step regularity: Their steps showed less consistent rhythm, indicating alterations in the regularity of their walking pattern.
• Reduced natural arm swing: They spent more time walking with their arms in a static position instead of swinging naturally.

Effects Of Parkinson’s Disease On Walking

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Parkinson’s disease is a progressive neurological disorder that affects movement. It occurs due to the loss of nerve cells that produce dopamine in a brain region called the substantia nigra. Dopamine helps regulate movement, coordination and other functions.

As dopamine levels decline, the brain's ability to coordinate movement is affected. This can lead to bradykinesia, or slowness of movement, rigidity of muscle, tremors and balance issues.

These changes can also affect gait. A person may take smaller steps, walk more slowly, experience difficulty moving or reduced swinging arms.

The study's findings suggest that some of these motor changes may be detectable in everyday movement well before the condition is formally diagnosed.

Changes in walking speed, balance, step length or arm movement can occur for several reasons, including ageing, joint problems, injuries, medication effects and other neurological conditions.

Parkinson’s disease is, however, diagnosed through a clinical assessment, which considers a person's symptoms, medical history and neurological examination. Other symptoms that may warrant medical evaluation include:

• A tremor especially when the affected hand or limb is at rest.
• Slowness in everyday movements like dressing or getting up from a chair.
• Muscle stiffness or rigidity.
• Problems with balance.
• Smaller handwriting or changes in speech volume.

Early Detection Of Parkinson’s Disease

Although there is currently no established treatment that stops or reverses the underlying progression of Parkinson’s disease, an earlier diagnosis can help people manage symptoms, access rehabilitation and support sooner.

Exercise, physiotherapy and medical care can help maintain mobility, balance and quality of life. Early assessment can also help doctors distinguish Parkinson’s from other conditions that may cause similar movement difficulties.

After the social media trend of ‘ferritin face’ had everyone scrutinising their face for pale skin, dark circles and sluggish features due to low iron levels, attention is now shifting to hair. Described as ‘ferritin hair’, social media users have been attributing symptoms like unusual hair shedding, thinning and brittle strands to the body’s low iron stores.

The trend is not just a fluke. There is a medical basis for recognising iron deficiency in people facing hair loss. However, ‘ferritin hair’ is not a formal medical diagnosis. Hair loss can be due to several reasons, including hormonal changes, stress, thyroid disorders, nutritional deficiencies and genetic hair-loss conditions.

So is there a connection between ferritin and hair health and which signs should prompt someone to seek medical advice?

What Is Ferritin And How Is It Connected To Your Hair?

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Ferritin is a protein that stores iron in the body and releases it when needed. A blood ferritin test helps assess the body's iron reserves. Iron is essential for several functions, including the production of haemoglobin, which carries oxygen in the blood.

When iron stores are exhausted, the body prioritises essential functions over those that are not absolutely necessary for survival. Hair growth may be affected in some people, contributing to increased shedding.

A 2023 clinical review published in Cutis noted that measuring serum ferritin can be useful while evaluating people with diffuse hair loss, especially to identify underlying iron deficiency.

A 2026 study published in Cureus reported that low serum ferritin and telogen effluvium in women may be connected.

A separate systematic review published in 2026 also found lower ferritin levels among people with telogen effluvium.

The European Food Safety Authority has also observed a cause-and-effect relationship between iron intake and the maintenance of normal hair growth.

Possible Signs Of 'Ferritin Hair'

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Hair shedding: One possible sign is diffuse hair shedding, in which more hair than usual falls from across the scalp rather than from one specific area. This can occur due to a condition called telogen effluvium, in which more hair follicles than usual enter the resting phase of the hair-growth cycle.

Hair thinning: Constant shedding can make the hair appear less dense over time. Some people may notice a wider-looking parting or thinner volume.

Dry or brittle hair: Iron deficiency may cause dry, brittle hair. However, hair texture can also be affected by heat styling, chemical treatments and other nutritional factors.

Other symptoms: Hair shedding may occur with other signs of iron deficiency like fatigue, weakness, poor concentration, breathlessness, palpitations or pale skin.

Causes Of Iron Deficiency Or Low Ferritin Levels

Iron deficiency can develop when the body loses more iron than it absorbs and does not receive enough through diet. Heavy menstrual bleeding and pregnancy are common reasons for iron deficiency. Other possible causes include:

• Inadequate dietary iron: People who do not consume enough iron-rich foods are at risk if their diets are restrictive.
• Poor absorption: Conditions such as coeliac disease can interfere with the absorption of iron.
• Blood loss: Gastrointestinal conditions like gastritis and intestinal polyps can sometimes lead to iron loss.
• Increased requirements: Pregnancy can demand increased iron needs.

Delhi’s air pollution has worsened even before the onset of peak winter. This has raised concerns about development and health of children who are constantly exposed to high levels of fine particulate matter (PM2.5).

While the immediate effects of polluted air like coughing, wheezing and breathing difficulties are known, research says that long-term exposure can also impact children’s developing brains, including effects on their memory, attention, IQ and ability to learn.

Delhi Winter Pollution Highest In 3 Years

On November 12, Delhi's air quality got listed under 'very poor' category. Stations like IIT Delhi and Delhi IITM recorded an AQI of 416, while NSUT Jaffarpur and Delhi DPCC recorded 404. Anand Vihar station recorded 319 while DTU Delhi stated 372.

A new analysis by the Centre for Science and Environment (CSE), released recently, found that Delhi’s average PM2.5 concentration during the week preceding Diwali stood at 236 micrograms per cubic metre (µg/m³), the highest in the last three years. This was 97% higher than the 120 µg/m³ recorded in 2025 and 32% above the 179 µg/m³ recorded in 2024.

The analysis also found that pollution levels during the early winter period were higher this year than in 2025. Vehicular emissions and pollution from neighbouring NCR districts were among the major contributors. The findings suggest that firecracker smoke from Diwali aggravated an already high pollution burden.

Delhi’s pollution crisis is not only threatening people’s lungs and cardiovascular health, it is also posing significant risks to children’s brain health. Could breathing polluted air affect how well children concentrate, recall information and learn at school?

Also read: World Pneumonia Day 2026: Post-Diwali Cough Or Pneumonia? Doctors Explain Warning Signs

Effects Of PM2.5 On Children’s Cognitive Health

PM2.5 refers to fine particulate matter with a diameter of 2.5 micrometres or smaller. These particles are small enough to travel deep into the respiratory system, fueling inflammation and oxidative stress. Not just lungs, their effects may reach children’s nervous systems.

Dr Sushil Singla, Director, Paediatrics, Sarvodaya Hospital, Sector 8, Faridabad told HealthandMe, “Exposure to PM2.5 (fine particulate matter) can affect children's cognitive development, including memory, attention span and learning abilities. These tiny particles can penetrate deep into the lungs and may trigger inflammation and oxidative stress, which can have wider effects on the developing brain. Children are particularly vulnerable because their brains are still developing and they inhale more air relative to their body weight than adults.”

The developing brain goes through significant changes throughout childhood. Processes involved in learning, memory, attention and executive function continue to evolve during these years. Exposure to environmental pollutants during fragile developmental periods is therefore a huge concern.

Also read: Delhi Air Pollution: PM2.5 Exposure May Raise Type 2 Diabetes Risk By 16%, Study Finds

Effects On Learning And Academic Performance

Difficulties in paying attention, memorising and processing complex information can make it harder for children to follow lessons in the classroom.

“Prolonged exposure to high levels of air pollution has been associated with difficulties in concentration, attention, information processing and memory. This may also affect a child's learning abilities and academic performance over time. Although the extent of the impact varies depending on the duration and intensity of exposure, parents should take preventive measures,” says Dr Singla.

What Does Science Say?

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Several studies suggest that air pollution exposure may be associated with poorer cognitive outcomes in children.

A review and meta-analysis published in Environmental Health in 2024 examined six studies involving 4,860 children across North America, Europe and Asia. It found a statistically significant association between higher PM2.5 exposure and lower IQ scores. The researchers reported that every 1 µg/m³ increase in PM2.5 was associated with a 0.27-point decrease in full-scale IQ.

A 2022 review of 86 studies also found evidence between particulate matter exposure and poorer executive function in children, specifically working memory. Executive function refers to a set of mental skills that help children plan, focus attention, remember instructions and manage multiple tasks.

Recent research based on data from the US Adolescent Brain Cognitive Development (ABCD) study also showed that PM2.5 exposure was linked with smaller hippocampal volumes and lower working-memory in young people.

The hippocampus is a brain region involved in learning and memory. The researchers suggested that exposure during both prenatal development and late childhood could affect brain structure and function.

What Can Parents Do?

While individual precautions cannot eliminate the pollution burden, they can help reduce exposure. Dr Singla advises parents to monitor AQI levels, limit outdoor activities during peak pollution hours and ensure adequate indoor ventilation. Other measures include:

• Check air quality before outdoor activities: Avoid outdoor sports, running and strenuous exercise when pollution levels are high.

• Keep windows closed during pollution episodes: Ventilate rooms when outdoor air quality improves. Where possible, use an air purifier with a HEPA filter.

• Use a well-fitting N95 mask: A respirator can reduce exposure to particulate matter when children need to be outdoors.

• Follow school advisories: Parents should stay informed about changes to outdoor classes, sports and school schedules during severe pollution days.