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

Image Credit: Canva

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.

End of Article

Three Vaccines Every Pregnant Woman Should Consider Amid Super Flu Case Surge

Updated Dec 15, 2025 | 09:00 PM IST

SummaryPregnant women are being urged to get vaccinated amid a sharp rise in winter viruses. Experts explain which vaccines are advised, why pregnancy raises the risk of complications, and how immunisation protects both mother and baby. Keep reading for details.
vaccines for pregnant women

Credits: Canva

One particularly vulnerable group across the UK is being strongly advised to receive up to three vaccines this season. This winter has seen a sharp rise in seasonal viruses, with the NHS warning that hospitals and ambulance services are under significant pressure due to higher demand.

This surge is largely driven by the H3N2 flu strain, known as subclade K, which is currently circulating at ‘medium’ levels but with increased activity. The UK Health Security Agency reports that flu-related hospital admissions have climbed to 7.79% per 100,000, up from 4.78% per 100,000 the previous week.

While common winter viruses such as flu, RSV, and whooping cough can cause uncomfortable symptoms for most people, certain groups face a higher risk of serious complications. These include children, older adults, people with weakened immune systems, and pregnant women.

Why You Should Get Vaccinated While Pregnant

Flu shots are highly effective at protecting both mothers and their babies, as the body responds differently to infections during pregnancy. NHS guidance notes that pregnant women are more susceptible to complications from viral infections, particularly in the later stages of pregnancy.

Infants are also at a higher risk of severe illness if exposed to viruses, which can sometimes result in mothers and babies requiring intensive care. Additionally, infections like flu can increase the risk of premature birth or low birth weight, which may raise the chance of stillbirth or neonatal death.

How Vaccines Protect Pregnant Mothers And Their Babies

Vaccination during pregnancy passes protective antibodies to the baby, giving them similar levels of defence against serious illness in the first weeks of life. This applies to vaccines for flu, whooping cough, and RSV, helping shield both mother and newborn.

Vaccines Pregnant Women Aren't Advised To Get

Pregnant women are generally advised to avoid vaccines that contain a live version of a virus, as these could theoretically infect the unborn child. However, evidence shows live vaccines do not typically cause birth defects.

The main exception is when the risk of infection is higher than the potential risk from the vaccine itself. Examples of live vaccines include:

  • Yellow fever
  • Measles, mumps, and rubella (MMR)
  • Tuberculosis (BCG vaccine)

Is It Safe To Get A Flu Shot During Pregnancy?

Yes. Getting a flu shot while pregnant is considered safe. If you have concerns, it is best to discuss them with your doctor, midwife, or another member of your prenatal care team during a routine visit, as per Mayo Clinic.

The American College of Obstetricians and Gynecologists advises that anyone who is pregnant during flu season should receive the flu shot, regardless of which trimester they are in.

A flu vaccine during pregnancy can help in several ways:

Lower the risk of flu-related illness during pregnancy

Pregnancy changes how the immune system, heart, and lungs function, which can make flu infections more severe. A flu shot reduces the chance of catching the flu and lowers the risk of needing hospital care if you do get sick.

Reduce risks to the developing baby

Getting the flu, especially early in pregnancy, may increase the risk of certain health problems in the unborn baby. Flu infection has also been linked to a higher chance of birth-related complications.

Protect the baby after delivery

Newborns are more likely to become seriously ill from the flu, but they cannot be vaccinated until they are six months old. Antibodies produced after a flu shot during pregnancy cross the placenta and are also found in breast milk, helping protect the baby in the first months of life.

When getting vaccinated, pregnant women should choose the flu shot, not the nasal spray. The injection uses an inactive virus and is safe at any stage of pregnancy. The nasal spray contains a live virus and is not recommended for pregnant women.

End of Article

Metformin Warning: NHS Urges Immediate Action If You Experience These 2 Life-Threatening Symptoms

Updated Dec 15, 2025 | 08:00 PM IST

SummaryMillions take metformin every day to manage type 2 diabetes. The NHS has now issued a clear warning about symptoms that should never be ignored. Here is what the medicine is used for, common side effects, and the serious signs that mean you should contact a doctor or seek urgent help.
metformin warning nhs

Credits: Canva

The NHS has released an alert for people taking a widely prescribed medication used by millions across the UK. Diabetes rates are at an all-time high, with the latest data showing more than 5.8 million people currently living with the condition.

Diabetes UK estimates that around 4.6 million people have already been diagnosed. At the same time, close to 1.3 million people are believed to have Type 2 diabetes without knowing it. The number of cases continues to climb, with figures from 2023–24 showing an increase of 185,034 compared to the previous year.

What Is Metformin Used For?

Metformin is most commonly prescribed for people with Type 2 diabetes. It helps lower and stabilise blood sugar levels and is often the first medicine recommended, alongside changes to diet and physical activity. According to Healthline, it is not used to treat Type 1 diabetes.

What Is Diabetes?

Diabetes is a condition where blood sugar levels become too high. There are three main types. Type 1 diabetes cannot be prevented and is usually diagnosed in childhood. Type 2 diabetes can sometimes be prevented or managed through lifestyle changes such as healthier eating, regular exercise, and weight loss. Gestational diabetes develops during pregnancy. People with Type 1 diabetes need insulin for life, while many with Type 2 or gestational diabetes may manage their condition through lifestyle changes and, in some cases, medication.

Metformin Warning: NHS Issues Alert

The NHS says that people taking metformin should be aware of certain symptoms. Information published on the NHS website lists six common side effects of the medicine. These include:

  • feeling sick
  • being sick
  • diarrhoea
  • stomach pain
  • loss of appetite
  • a metallic taste in the mouth

The NHS also notes that metformin can increase the risk of vitamin B12 deficiency. Some people may experience low blood sugar, but this usually happens only when metformin is taken alongside other diabetes medicines such as insulin or gliclazide.

However, the NHS warns that there are other, more serious side effects. In two situations, patients are advised to contact their GP “straight away,” while one requires calling 999 “now.”

Metformin Serious Side Effects

According to the NHS, serious side effects are uncommon and affect fewer than 1 in 10,000 people. However, medical help should be sought immediately by calling a doctor or dialling 111 if:

you feel generally unwell with extreme tiredness, fast or shallow breathing, feeling cold, and a slow heartbeat

the whites of your eyes turn yellow, or your skin becomes yellow, which may be harder to notice on brown or black skin, as this can indicate liver problems

Metformin Serious Allergic Reaction

In rare cases, metformin can cause a severe allergic reaction known as anaphylaxis. The NHS advises calling 999 immediately if:

  • your lips, mouth, throat, or tongue suddenly swell
  • you are breathing very quickly or struggling to breathe, including wheezing or feeling as though you are choking
  • your throat feels tight or you have difficulty swallowing
  • your skin, tongue, or lips turn blue, grey, or pale, which may be easier to spot on the palms or soles in people with darker skin
  • you suddenly feel confused, very drowsy, or dizzy
  • someone collapses and cannot be woken
  • a child becomes limp, floppy, or unusually unresponsive, with difficulty holding up their head or focusing

The NHS adds that you or the affected person may also develop a rash that is swollen, raised, itchy, blistered, or peeling. These signs point to a serious allergic reaction and may require urgent hospital treatment.

End of Article

Flu Symptoms 2025: Three Easily Missed Symptoms Experts Warn About As UK Cases Rise

Updated Dec 15, 2025 | 06:00 PM IST

SummaryAs flu cases rise across the UK, health experts warn of an early and intense winter season driven by a mutated strain. Here’s what to know about flu symptoms in 2025, lesser-known warning signs, NHS advice, and who is eligible for a free flu vaccine.
flu symptoms 2025

Credits: Canva

The public is being advised to limit close contact with others if they experience flu or Covid symptoms, as the NHS braces for a challenging winter ahead. A mutated, or “drifted”, version of the H3N2 flu strain is fuelling a faster and earlier rise in infections and hospital admissions in 2025. Dr Conall Watson, Consultant Epidemiologist at the UK Health Security Agency, has urged those who are eligible to get vaccinated at the earliest.

He said there are also everyday precautions that can help protect others, especially during the festive season. “If you have symptoms of flu or Covid-19, such as a high temperature, cough, or feeling tired or achy, you should try to reduce contact with other people, particularly those who are more vulnerable. Regular handwashing and good ventilation indoors both make a difference. If you need to go out while unwell, wearing a face covering is worth considering,” he added.

This guidance becomes even more important in the run-up to Christmas, when families tend to gather and older relatives, who face a higher risk of serious illness, are often present.

Flu Symptoms 2025: Less Obvious Symptoms People Often Miss

While many flu symptoms are widely recognised, some are less commonly associated with the illness. The NHS lists ten typical flu symptoms, which often appear suddenly.

Among these, three signs that people may overlook are trouble sleeping, a reduced appetite, and feeling unusually tired or drained. During the busy weeks leading up to Christmas, these symptoms can easily be dismissed as stress or exhaustion rather than flu.

Flu Symptoms 2025: Full List of Common NHS-Listed Signs

The remaining seven symptoms listed by the NHS include a sudden high temperature, body aches, a dry cough, sore throat, headache, diarrhoea or stomach pain, and feeling sick or being sick.

At the same time, the NHS is dealing with added pressure from a surge in winter viruses alongside a five-day strike by resident doctors, previously known as junior doctors. Health leaders and the Government have called on doctors to withdraw the strike, which ministers have described as reckless and irresponsible given the strain on services.

Flu Symptoms 2025: NHS Under Pressure as Winter Challenges Mount

Home Secretary Shabana Mahmood, as per The Independent, said that strikes within the NHS “undoubtedly” put lives at risk. Speaking to Sky News’ Sunday Morning With Trevor Phillips, she said, “We want to ensure the NHS is supported through a difficult winter and this flu outbreak we are currently seeing. It is important that everyone understands what is at stake.”

She also pointed to a difference between the position taken by resident doctors’ leadership and the views of individual doctors, noting that the situation remains sensitive as the NHS navigates one of its most demanding winter periods.

Flu Symptoms 2025: Who Can Still Get Vaccinated?

The NHS provides the flu vaccine free of charge to groups considered most at risk of serious illness. This includes people aged 65 and above, those with certain long-term health conditions, and pregnant women, as per the official NHS website.

The offer also extends to care home residents, carers who look after older or disabled individuals or receive a carer’s allowance, and people living with someone who has a weakened immune system. Frontline health and social care workers are also eligible and can usually receive the vaccine through their employer.

Children are included too. A nasal spray version of the flu vaccine is offered to children aged two and three, as well as school-going children from reception through to year 11.

This is because children tend to catch and spread flu more easily. Vaccinating them not only protects their own health but also helps reduce the risk for vulnerable people around them who could become seriously ill.

End of Article