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.

People troubled by increasing forgetfulness are being advised to have their vitamin levels checked, as a shortage of one essential nutrient can cause symptoms that closely resemble dementia. According to the NHS, a deficiency in a key vitamin may lead to neurological issues that affect the nervous system, including problems with memory.

As per Mirror, Dr Eric Berg, DC, has also drawn attention to what he calls the “leading vitamin deficiency that mimics dementia,” identifying vitamin B12 as a major concern. Adequate levels of this nutrient are vital because it helps form red blood cells that carry oxygen through the body, supports DNA production and regulation, and converts food into usable energy.

Dr Berg, well known for promoting healthy ketosis and intermittent fasting, is the author of the bestselling book The Healthy Keto Plan and runs Dr Berg Nutritionals. He has since moved away from clinical practice to focus on sharing health information through online platforms.

Why Is Vitamin B12 Important?

Vitamin B12 is essential for the healthy functioning of the central nervous system and plays a key role in maintaining clear thinking and memory. When levels drop, people may experience weakness, numbness, difficulty walking, nausea, unintended weight loss, irritability, extreme tiredness, and a fast or irregular heartbeat.

Bones, hair, skin, and nails may also suffer. Dr Berg explains: “Vitamin B12 is essential for normal brain function. Without it, symptoms similar to dementia can develop. This vitamin is mainly found in animal-based foods, although some microbes can produce it. Low intake of animal products is the most common reason for vitamin B12 deficiency.”

Research suggests that low B12 levels can impair nerve function and may contribute to conditions such as dementia, peripheral neuropathy, or subacute combined degeneration. A deficiency can also interfere with DNA synthesis and cause homocysteine levels to rise.

What Does The NHS Say?

On its official website, the NHS states: “Most cases of vitamin B12 or folate deficiency can be treated easily and effectively, so complications are uncommon. However, complications may sometimes occur, particularly if the deficiency has been present for a long time. If neurological problems develop, they can occasionally be permanent.”

The NHS explains that a lack of vitamin B12 may lead to neurological symptoms such as:

• vision problems
• memory loss
• pins and needles
• loss of physical coordination (ataxia), which can affect speech or walking
• damage to parts of the nervous system (peripheral neuropathy), especially in the legs

A study published in 2020 found a “clear association between low vitamin B12 levels and progressive cognitive impairment.” Researchers added that more large-scale studies are needed to confirm these findings and to see whether correcting the deficiency can slow cognitive decline.

More than one in ten older adults are estimated to have low vitamin B12 levels. In addition to memory problems, a deficiency may cause other neurological and psychological symptoms, including:

• confusion
• difficulty with thinking and reasoning
• tingling or numbness in the hands and feet
• poor balance and coordination
• fatigue
• weakness
• vision disturbances
• peripheral neuropathy affecting the nervous system
• depression, anxiety, paranoia, and delusions
• incontinence
• loss of taste and smell

Can A Vitamin B12 Deficiency Be Treated?

If a vitamin B12 deficiency is diagnosed, treatment usually involves high-dose supplementation, either through injections or oral supplements. GPs may arrange regular blood tests to monitor B12 levels over time.

As per The Mirror, the longer the deficiency goes untreated, the higher the risk of permanent damage. That said, it is often reversible, with many people noticing marked improvement within three to six months. Other signs of vitamin B12 deficiency may include:

• numbness, tingling, and pins and needles in the arms and legs
• pale skin
• unsteady walking or balance problems
• a rapid heartbeat
• shortness of breath
• a swollen tongue

“As we get older, HCL levels naturally decline. They can also drop if you take antacids or medications like Metformin. Interestingly, acid reflux can actually be a sign of low HCL, and antacids may worsen the problem. Betaine hydrochloride is one way to support normal stomach acidity.”

What Else Is Worth Being Aware Of?

Deficiencies in other nutrients may also cause symptoms that resemble dementia. Dr Berg highlights vitamin B1, which is often linked to high sugar and carbohydrate intake. Zinc deficiency, sometimes related to phytic acid found in grains, and low vitamin D levels due to limited sun exposure, may also play a role. “Nutrient deficiencies can shrink the hippocampus, which is linked to Alzheimer’s disease,” Dr Berg said.

The NHS has released fresh guidance on how to manage flu symptoms, setting out four simple steps that could help people recover faster. Influenza, commonly known as flu, is a highly contagious viral illness that affects the respiratory system, including the nose, throat, and lungs. It is marked by a sudden onset of fever, muscle aches, headaches, a persistent dry cough, and extreme tiredness, making it far more serious than the common cold.

Recent data from NHS England shows that in the first week of January, an average of 2,924 hospital beds across England were taken up by patients with flu. This figure reflects a nine per cent increase compared with the previous week.

With flu cases continuing to climb, the NHS has shared several important steps that people can follow to help support a quicker recovery.

NHS Shares Four Steps To Tackle Flu Symptoms 2026

In a recent update, NHS England warned that social gatherings during Christmas and New Year may have led to a resurgence of winter illnesses. NHS national medical director Professor Meghana Pandit said: “It is clear that the pressure on the NHS this winter is far from easing, with hospitals once again seeing a rise in patients admitted with flu and other respiratory viruses last week.

“The colder weather is also bringing more vulnerable patients to A&E with breathing difficulties, along with an increase in injuries caused by slips and falls in icy conditions, making this an exceptionally demanding period.”

According to the Mirror, she added: “Staff continue to work extremely hard, with teams across the country doing everything possible to ensure patients receive the care they need. It remains important for people to seek care as usual, and there are still many opportunities to get vaccinated and protect yourself against flu.”

Flu Symptoms 2026

The NHS says flu symptoms tend to appear suddenly and may include:

• A high temperature that comes on quickly
• Aches and pains throughout the body
• Feeling very tired or exhausted
• A dry, persistent cough
• A sore throat
• Headaches
• Trouble sleeping
• Loss of appetite
• Diarrhoea or stomach pain
• Feeling sick or being sick

Children may experience similar symptoms, but they can also have earaches and may appear more tired or less active than usual.

Flu Symptoms 2026: NHS Advice

The NHS states: “If you have flu, there are steps you can take to help yourself recover more quickly.”

• Rest and get plenty of sleep
• Keep yourself warm
• Use paracetamol or ibuprofen to reduce fever and ease aches and pains
• Drink plenty of fluids to prevent dehydration, aiming for urine that is pale yellow or clear

Flu Symptoms 2026: When To Seek Help?

You should contact NHS 111 or arrange an urgent GP appointment if you or your child have flu symptoms and:

• You are concerned about your baby’s or child’s condition
• You are aged 65 or over
• You are pregnant
• You have a long-term health condition, such as diabetes or a problem affecting the heart, lungs, kidneys, brain, or nerves
• You have a weakened immune system, for example due to chemotherapy or HIV
• Your symptoms have not improved after seven days
• You develop sudden chest pain
• You have trouble breathing
• You begin coughing up large amounts of blood

Cipla, a global name in inhalation therapies, has announced the launch of Afrezza, the world’s only rapid-acting inhaled insulin, in India. The drug is approved for adults with type 1 and type 2 diabetes to help manage high blood sugar levels and represents a notable change in how insulin can be delivered in a country facing a growing diabetes crisis.

For many patients, injecting insulin during long workdays or in public spaces can be uncomfortable or inconvenient. While insulin injections are widely used, awareness around inhaled insulin remains limited. Below, we explain how inhaled insulin works and what it means for people living with diabetes.

What Is Inhaled Insulin?

Inhaled insulin is a fast-acting form of insulin that is taken as a fine powder through an inhaler. Instead of being injected, it is breathed into the lungs, where it is quickly absorbed into the bloodstream to manage blood sugar spikes that occur after meals. This makes it a needle-free option for adults with type 1 or type 2 diabetes.

It begins working very rapidly, often just before or at the start of a meal, and exits the body sooner than injectable insulin. Because of this, it may lower the risk of insulin stacking and offers greater flexibility around mealtimes. Afrezza is currently the main FDA-approved inhaled insulin available.

How To Use Inhaled Insulin?

The insulin comes as a dry powder and is taken using a small, discreet inhaler with single-use cartridges available in 4, 8, and 12-unit doses. It has been approved by the FDA for adults with type 1 and type 2 diabetes to help control blood sugar rises after meals. “Its absorption into the bloodstream is faster than injectable rapid-acting insulins such as lispro or aspart,” said Dr Hetashvi Gondaliya, as reported by The Indian Express.

How Does Inhaled Insulin Work For Diabetic People?

Before starting inhaled insulin, patients are required to undergo lung function tests. The insulin itself is identical to the insulin used in injections. What differs is the way it enters the body.

In simple terms, the insulin is not new, only the method of delivery is. Once inhaled, it is absorbed through the lungs, passes into the bloodstream, and helps control the rise in blood sugar levels that happens after eating.

Is Inhaled Insulin Better Than Injectable Insulin?

Inhaled insulin is not necessarily better for everyone, but it offers an alternative to injections. It works faster to control post-meal blood sugar levels and may appeal to people who dislike needles. However, it is less efficient than injected insulin, requires a specific inhaler, and is not suitable for all patients.

Studies show that blood sugar control is similar to injectable insulin, but inhaled insulin must still be used along with long-acting basal insulin. It is best viewed as an option rather than a replacement.

Is Inhaled Insulin Suitable For All Diabetic Patients?

According to the National Institutes of Health, inhaled insulin is not appropriate for everyone. It may be considered for adults with type 1 or type 2 diabetes who want a needle-free option or need rapid control of blood sugar after meals.

However, it is not recommended for people who smoke or have smoked in the past six months, or for those with lung conditions such as asthma, COPD, or bronchitis. It is also not approved for children or pregnant women. Lung health and ongoing insulin needs must be carefully evaluated before starting this treatment.

Always consult your doctor before switching to or starting inhaled insulin. Your healthcare provider can help determine whether it is safe and suitable for you based on your medical history and lung health.