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.

Sonali Bendre, actor, who is known for talking about her cancer journey, inspiring other survivors to talk about it too, has found herself at the center of a heated debate after she spoke how naturopathy and autophagy helped her in her cancer recovery.

Bendre, who was diagnosed with stage 4 metastatic endometrial cancer in 2018, wrote on X that she believes autophagy played a role in her healing journey. Her post quickly drew sharp criticism from several doctors.

Doctors Point Out That Cancer Remission Came Through Medical Treatment

Members of the medical community reminded her that her remission was the result of evidence-based cancer treatments, including chemotherapy, radiation and surgery. Many emphasized that autophagy is not a recognized medical therapy and should not be presented as one.

One post from hepatologist Dr Cyriac Abby Philips on X said, “Your cancer went into remission after chemotherapy, radiation, and surgery at an advanced cancer treatment hospital. Not because of Naturopathy. Not because of autophagy. Because you have the option and privilege to opt for the best treatments from scientific practice to help you.”

Bendre Clarifies Her Stand

Following the criticism, Bendre clarified that she was sharing her personal experience as a survivor, not medical advice. She wrote that her journey included elements she explored with the help of her naturopath, and these practices were only part of her overall healing process. In her words, “I have never claimed to be a doctor, but I am certainly not a quack either. I am a cancer survivor, someone who has lived through the fear, pain, uncertainty, and rebuilding that the disease brings.”

What Autophagy Actually Is

Autophagy is a natural process in which the body breaks down and recycles old or damaged cell components. Cells contain various structures that help them function, and over time some of these structures wear out. Autophagy acts like a clean-up and recycling system. It allows cells to dismantle faulty parts and reuse the useful components to maintain healthy cell function. Anything that cannot be used is removed by the cell.

This process is an important quality control mechanism. If too much cellular waste builds up, it can interfere with normal cell activity. Autophagy helps keep cells efficient and healthy. The scientific understanding of autophagy grew significantly after Japanese biologist Yoshinori Ohsumi won the Nobel Prize in Medicine in 2016 for his work uncovering how it works. While autophagy is essential for survival, it is not considered a medical treatment for diseases.

Can Autophagy Treat Cancer?

Experts explain that autophagy plays a complicated role in cancer. In the early stages, it may help prevent tumor formation by clearing damaged components. However, in established cancers, the same process can allow tumor cells to survive stress and become more resistant to treatments like chemotherapy.

Disclaimer: Please consult a qualified doctor or oncologist before choosing any treatment for cancer. Health and Me does not endorse alternative therapies as substitutes for evidence-based medical care. This article is based on publicly available information. All medical conditions should be evaluated and managed under the guidance of a licensed healthcare professional.

What if you are told that the vape you are using contains bacteria found in poop. You read that right. According to a study conducted by HAYPP along with Microbiologist Reynold Mpofu at BioLabTests, bacteria like staphylococcus and bacillus were found on vape, as well as fecal bacterium, E. coli is found on vape, which is often found in public bathroom.

What Did The Study Find?

More than 100 million people worldwide use e-cigarettes or vapes, and at least 1 in 6 people vape in toilet. Furthermore, vapes are rarely cleaned, and thus become germ hotspots.

The study found that vape mouthpieces are highly contaminated with bacteria. More than 1.5 million colony-forming unites or CFUs were identified on the vape mouthpiece, the maximum amount measurable by the lab, carrying as many as 2,300 times more bacteria than a public toilet, which has 50 CFUs per square inch.

“Laboratory analysis revealed that the mouthpiece is the dirtiest component of the vape. This isn’t surprising given that the human mouth, largely considered to be one of the ‘dirtiest’ parts of the body, harbors approximately 700 species of bacteria, that amounts to billions of individual bacteria,” said Mpofu.

The study was able to identify a range of bacteria, including skin microbes to gut bacteria like E.coli.

Also Read: UK Investigates Impact Of Vaping On Its Young Users

The Species Identified

The study identified these following bacteria on the vape:

• Bacillus: commonly found in dust and the air
• E.coli: indicates possible fecal contamination
• Yeast and mold: can cause respiratory irritation
• Staphylococcus: usually harmless, but could cause infection
• Enterococcus: intestinal bacteria that can persist on surfaces

The study was also able to identify bacteria on the vape body. The lab also observed a rapid microbial growth between just 2 to 3 days of use. These colonies could be seen multiplying thousand of times over.

While many of these are found on human skin or surrounding, some are intestinal bacteria, like aforementioned, E.coli, and Enterococcus, which points towards unwashed hands, explaining the transfer on the surface.

“Much like phones, vapes are frequently handled and placed on a variety of surfaces, allowing germs, oils, and dirt from hands, pockets and various environments to latch on the device. The findings confirmed the presence of bacteria, including E. coli and Enterococcus, on the vape body, likely arising from inadequate hand hygiene or the transfer of microorganisms from bathroom environments or other contaminated surfaces,” said Mpofu.

Read: Why Is My Idea Of Break Is To Have A Smoke?

The Timeline Of Bacteria Development

The first signs of microbes start to appear within the first day of buying a brand new vape, especially around the mouthpiece.

By day three, the vape accumulates more than 2,300 times the microbial load typically found on a toilet seat.

By the seventh day, bacteria like E.coli. and Enterococcus and other fecal indicators are detected on the mouthpiece and vape’s body. Mould and bacteria are also found on levels.

By day 14, despite no new use or cleaning, the vape remains heavily contamination. The contamination does not fade overtime.

Read: These US States Vape The Most

The UK recorded its coldest autumn so far when the temperatures fell as low as -12.6C in Scotland. This was the lowest recorded in November from the last 15 years. The mercury also fell to -7.6C in Wales, -6C in Northern Ireland and -6.7C in England. Cold health alters have been issued in England. The UK Health Security Agency (UKHSA) has issued amber cold-health alerts for North West, North East, and Yorkshire and Humber, while other areas are under yellow alerts.

With this new developments, a Yorkshire dentists has pointed out that cold weather could, in fact, impact one's dental health.

Dr Abdul Dalghous, a dentist at Yorkshite Dental Suite said that chilly weather can trigger changes inside your mouth. Even if you have not notices them before, the change in weather and the temperature drop could negatively impact your dental health.

What Does The Doctor Say?

Sensitivity

The doctor says that there could be sudden sensitivity that one can feel when the weather is cold outside. "If you feel a sharp, almost electric twinge in your teeth when you breathe in icy air, it may be a sign that your enamel is under strain," explains the doctor.

Dr Dalghous explains that sudden cold exposure could make teeth contract quickly, irritating the nerves inside the tooth.

Teeth Ache

The cold weather can slightly weaken your immune system, making you more susceptible to illnesses such as colds. The doctor explains, "It’s very common for sinus pressure to feel like a toothache. This is due to your sinuses swelling and pressing on the roots of your upper teeth, often creating a dull, aching sensation. Many people mistake this for dental pain when the real culprit is winter congestion."

Dry Mouth

Another common experience during winters is having a dry mouth. This happens because cold air tends to be less humid and thus breathing it in through your mouth could lead to a drier mouth than usual. "Saliva acts as your mouth's natural defense system, so, when levels drop, your teeth become more vulnerable to sensitivity, plaque build-up and decay," the doctor notes.

Pain While Drinking Cold Beverages Or Eating Cold Food

Winter weather could further amplify the discomfort that is caused by cold food or drinks. "If a sip or bite of a chilled snack causes pain that lingers, it could point to underlying issues such as enamel erosion, cavities or exposed dentine that are becoming more noticeable in colder weather.”

Small Cracks Could Be More Noticeable

Teeth naturally expand and contract when exposed to temperature shifts, and winter tends to make these changes more intense. Over time, this added stress can lead to tiny hairline cracks in the enamel. You may not spot them, but you might feel rough spots, sudden sensitivity in one area, or small chips you never noticed before.

Dr Abdul adds: “To help ease these changes, we recommend breathing through your nose where possible and avoid biting into cold foods. When it comes to your oral hygiene ensure you’re brushing twice a day using toothpaste designed for sensitivity and flossing. Following these will help your teeth during this cold weather!”