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.

Parkinson's disease is a progressive, neurodegenerative movement disorder caused by the loss of dopamine-producing brain cells, primarily affecting people over 60. Apart from motor loss, the disease also causes cognitive decline, depression, anxiety and swallowing problems.

The first symptom may be a barely noticeable tremor in just one hand or sometimes a foot or the jaw. Over time, swinging your arms may become difficult and your speech may become soft or slurred. The disorder also causes stiffness, slowing of movement and trouble with balance that raises the risk of falls.

However, before clear symptoms begin to appear, Neurologist Rachel Dolhun says certain signs may help identify the onset of the disease decades before it is diagnosed.

“It’s important to stress that not everyone who has these symptoms goes on to develop Parkinson’s,” said neurologist Rachel Dolhun. “But we know that in some people, these can be some of the earliest signs," she told The Washington Post.

Here is what you should look out for:

1. Loss Of Smell

Loss of smell, or hyposmia, is a common and early non-motor symptom of Parkinson's disease, affecting up to 90 percent of patients. This symptom can significantly impact quality of life by reducing the enjoyment of food and diminishing appetite.

While strongly linked to Parkinson's, smell loss can also stem from other causes, including sinus problems, COVID-19, or aging.

2. Acting Out Dreams

Acting out dreams, known as REM Sleep Behavior Disorder (RBD), involves physically enacting vivid, often unpleasant dreams through shouting, punching, or kicking during sleep.

This typically happens because the brainstem fails to temporarily paralyze muscles during REM sleep. It is a strong early warning sign of Parkinson's disease, often appearing years or decades before motor symptoms. About 50 percent of people with Parkinson's experience RBD.

READ MORE: Parkinson’s Patients May Soon Walk Better With This New Personalized Brain Therapy

3. Constipation

Constipation is a very common and significant non-motor symptom of Parkinson's disease that is caused by nerve changes slowing gut muscles and potentially exacerbated by low activity and dehydration.

Constipation can also be caused by Parkinson's medications such as anticholinergics, amantadine and other common drugs such as opioids, iron/calcium antacids.

4. Dizziness As You Stand

The autonomic nervous system fails to properly constrict blood vessels or increase heart rate upon standing, often due to a lack of norepinephrine. This causes the autonomic nervous system to fail in regulating blood pressure. Over time, this leads to Neurogenic Orthostatic Hypotension.

Beyond dizziness, symptoms include blurred vision, weakness, fatigue, cognitive "fog," and "coat hanger pain" (pain in the neck/shoulders). Often times, patients experience dizziness in the morning or immediately after meals.

Diagnosing Parkinson’s disease is mostly a clinical process, meaning it relies heavily on a healthcare provider examining your symptoms, asking questions and reviewing your medical history. Various imaging and diagnostic tests used to detect disease includes CT scan, PET scan, MRI scan and genetic testing.

Beyond icy roads and fogged-up car windscreens, the coldest season can also bring on a painful condition that leaves the skin covered in red, itchy patches. Doctors have issued a warning about this lesser-known illness, which tends to worsen in low temperatures.

The condition, known as cold urticaria, affects around one in 2,000 people. It causes swelling and itching of the skin when it comes into contact with cold air, cold water, or even air conditioning. Red welts or hives can appear within minutes, and the discomfort may last for as long as two hours.

What Is Cold Urticaria?

Cold urticaria is an uncommon condition in which the body reacts abnormally to cold temperatures. It typically causes rashes or hives after exposure to cold air, water, food, or drinks. In some cases, symptoms can be more serious. According to the Cleveland Clinic, the condition may sometimes be linked to an underlying blood cancer or an infectious illness.

Griet Voet, head of a dermatology clinic in Ghent, Belgium, as per Express UK, said the condition is often confused with common winter skin problems such as eczema. “This is not just dry skin caused by cold weather, it is a genuine allergic reaction to cold,” she explained. In more severe cases, large areas of the body may be affected, particularly after swimming in cold water or spending extended periods outdoors. This can lead to intense itching, facial flushing, and even headaches, stomach pain, or fainting. Sudden temperature shifts, such as moving from a warm indoor space into cold outdoor air, can also trigger symptoms. Drinking ice-cold beverages may cause swelling of the lips, mouth, or throat.

Cold Urticaria: What Are The Symptoms Of This Disease?

Symptoms of cold urticaria differ from person to person and can range from mild to severe. They may be limited to a small patch of skin or spread across the entire body.

The most common sign is a skin rash that appears after contact with something cold. The rash usually develops once the exposure ends, as the skin begins to warm up.

The rash may include:

• Hives, bumps, or raised welts
• Itching
• Redness
• Swelling

• Fatigue
• Fever
• Headache
• Joint pain

• Fainting
• Heart palpitations
• A severe allergic reaction known as anaphylaxis
• Shortness of breath or wheezing

How Is Cold Urticaria Diagnosed?

A medical professional can often diagnose cold urticaria using a simple test. An ice cube is placed on the skin, usually on the arm, for a few minutes and then removed. If a hive or rash appears several minutes later, the result is considered positive.

In cases of familial cold urticaria, diagnosis may involve exposure to cold air for a longer duration.

Doctors may also suggest blood tests to check for any underlying illness or infection that could be contributing to the condition.

Health authorities have urged the public to stay alert to Nipah virus symptoms after doctors warned that up to 75 per cent of infected patients may not survive. The UK Health Security Agency (UKHSA) has classified Nipah as a “high priority pathogen” because of its severe fatality rate and the absence of any proven treatment.

In India, the federal health ministry has confirmed two cases in the eastern state of West Bengal. This has triggered large-scale containment measures, with local officials placing nearly 200 people who had contact with the infected individuals under quarantine.

Also Read: Vitamin D Supplements Under Scrutiny As It Fails Safety Test

In response, several Asian nations have stepped up airport checks and health surveillance for travellers arriving from India. Professor Paul Hunter, an infectious disease specialist at the University of East Anglia, said identifying Nipah cases at borders is challenging, as symptoms can take a long time to appear.

What Is Nipah Virus?

According to UKHSA, Nipah virus is a zoonotic infection, meaning it can pass from animals to humans. It can also spread through contaminated food or via direct human-to-human contact. The virus was first discovered in 1999 during an outbreak affecting pig farmers in Malaysia and Singapore.

Fruit bats, especially those belonging to the Pteropus species, are the virus’s natural carriers. Research shows that Nipah can also infect other animals, such as pigs, dogs, cats, goats, horses and sheep.

Nipah Virus Symptoms

• Sudden onset of fever or general flu-like illness
• Development of pneumonia and other breathing-related problems
• Swelling or inflammation of the brain (encephalitis) or meningitis

Symptoms usually appear between four and 21 days after exposure, although longer incubation periods have occasionally been reported. More severe complications, including encephalitis or meningitis, can develop between three and 21 days after the initial illness begins.

Also Read: Nipah Virus Outbreak In India: All That You Need To Know About This Infection

Nipah Virus Symptoms Explained As Doctors Warn 75% Fatality Rate

UKHSA has cautioned that between 40 and 75 per cent of people infected with Nipah virus may die. Those who survive can experience long-term neurological effects, such as ongoing seizures or changes in behaviour and personality. In rare instances, the virus has been known to reactivate months or even years after the first infection.

Nipah Virus: Can You Prevent It From Spreading?

For people travelling to regions where Nipah is known to occur, prevention largely involves reducing exposure risks:

• avoid contact with bats, their habitats, and sick animals
• do not drink raw or partially fermented date palm sap; if consuming date palm juice, make sure it has been boiled
• wash all fruits well with clean water and peel them before eating; avoid fruits found on the ground or those that appear partly eaten by animals
• use protective clothing and gloves when handling sick animals or during slaughter and culling
• maintain good hand hygiene, especially after caring for or visiting ill individuals
• avoid close, unprotected contact with anyone infected with Nipah virus, including exposure to their blood or bodily fluids

Nipah Virus Symptoms Can Be Transmitted Easily?

Many Nipah infections have been linked to eating fruit or fruit-based products contaminated by the saliva, urine or droppings of infected fruit bats. Human-to-human transmission can also occur through close contact with an infected person or their bodily fluids, according to Mirror.

Such transmission has been documented in India and Bangladesh, with cases often involving family members or caregivers tending to infected patients. At present, there is no specific, proven treatment for Nipah virus infection, and no licensed vaccine is available to prevent it.

So far, no Nipah virus cases have been reported in the United States or the United Kingdom.