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 voice pitch, volume or clarity in older adults could be an early warning sign of cognitive decline, according to a new analysis.

The study, published in the Journal of Voice, found that older adults who experienced a decline in voice quality had a higher risk of cognitive impairment or dementia than those without a voice disorder.

Voice Disorders And Higher Dementia Risk

The study tracked the health of more than 833,000 older Americans. Researchers found that people with a voice disorder had a 58% higher risk of cognitive impairment or dementia than those without voice problems.

The risk was even higher among people who had both a voice disorder and hearing loss, a well-recognized risk factor for Alzheimer’s disease.

Who Should Worry?

A brief episode of hoarseness does not mean that a person is developing dementia.

However, persistent or noticeable changes in the voice, particularly when accompanied by hearing loss, may warrant a medical evaluation and, where appropriate, an assessment of cognitive health.

“We found the strongest link with dementia among patients experiencing a voice disorder and hearing loss,” said study author Dr. Robert Sataloff, a professor and chair at Drexel University’s College of Medicine.

“Importantly, we found that those with a voice disorder and no hearing loss were at greater risk than patients who experience hearing loss only. It may be valuable for many of these patients to talk with an otolaryngologist who can arrange a cognitive assessment to help patients develop an appropriate care plan.”

Why Voice Changes Can Signal Cognitive Decline?

The researchers speculate that voice disorders may contribute to cognitive decline by limiting social interaction, which can also be affected by hearing loss.

People who have difficulty speaking or hearing may avoid social gatherings or group activities because they feel embarrassed or uncomfortable about their limitations. However, social engagement can help keep the ageing brain active by providing ongoing mental stimulation.

“If you have a voice disorder that impacts how your voice sounds or if it’s painful when you attempt to talk or sing, it’s only natural to participate less often in brain-supporting social or other engaging activities,” Dr. Sataloff said.

Speaking less may mean less social and cognitive stimulation, which could potentially contribute to dementia risk. However, the researchers also noted another possibility: changes in the brain associated with dementia could themselves contribute to voice problems. However, this has not been directly studied.

Voice Problems Can Have Treatable Causes

Most people with voice disorders will not go on to develop Alzheimer’s disease. Voice changes can have several other causes, including thyroid problems and cysts on the vocal cords, some of which can be treated effectively.

Speech therapists can also help people with impaired speech communicate more effectively and confidently.

Seeking medical attention for persistent voice changes can therefore help identify treatable causes and determine whether further evaluation, including a cognitive assessment, is needed.

As the 2026-27 flu season begins in the US, doctors are reminding people that influenza can cause more than just cough, fever and a runny nose. Symptoms can come on suddenly and affect the entire body, with some patients also developing gastrointestinal symptoms.

During the 2025-2026 flu season, influenza caused at least 32 million illnesses, 390,000 hospitalizations and 24,000 deaths in the US, according to preliminary data from the Centers for Disease Control and Prevention (CDC).

According to the World Health Organization, from February through August 2026, influenza A(H1N1)pdm09, A(H3N2) and influenza B viruses circulated across regions. Influenza A viruses predominated in most regions, while influenza B dominated in Northern and Western Africa, North America and Eastern Asia.

While it is too early to know what the season ahead will look like, knowing the range of flu symptoms can help people recognize the infection. These include the classic symptoms of sudden fever, chills, body aches and extreme fatigue, as well as vomiting and diarrhea in some children.

Flu Symptoms Can Come On Suddenly

Also read: WHO Sets 2027 Flu Vaccine Strains; US States Can Now Order Free COVID Shots For Kids

Influenza commonly affects the nose, throat and lungs, but its symptoms can be widespread.

The most common symptoms include:

• Fever

• Chills

• Body aches

• Extreme fatigue

• Headache

• Sore throat

• Runny or stuffy nose

• Cough

Family physician Carlos Galindo at Texas Health Family Care said fever, chills and body aches are the classic flu combination. People may also develop a sore throat, runny nose and headache, according to the American Medical Association.

Unlike the gradual tiredness that can accompany a cold, flu-related fatigue can be intense.

Galindo described it as significant lethargy and malaise, with some patients feeling completely drained.

Watch For Severe Body Aches And Fatigue

One of the key features doctors want people to recognize is how quickly influenza can make someone feel unwell.

Family physician Christopher Zipp of Atlantic Health in Morristown, New Jersey, said flu symptoms can develop over just a few hours, with fever, chills and body aches appearing suddenly.

However, flu symptoms can overlap with those of other respiratory infections, so symptoms alone cannot always confirm that someone has influenza.

Read More: Fall Vaccines 2026: US Doctors Issue COVID, Flu And RSV Jab Guidance

Children Can Have Vomiting And Diarrhea

Flu symptoms can also differ between children and adults. While fever, chills, body aches and respiratory symptoms are common, children may also develop gastrointestinal symptoms such as vomiting and diarrhea.

These symptoms can occur alongside cough, sore throat or other signs of respiratory infection.

When Can Flu Become Serious?

For most people, influenza is an unpleasant but temporary illness. However, it can sometimes lead to complications such as pneumonia and hospitalization, particularly in people with underlying health conditions.

Symptoms that become severe or worsen rather than improve warrant medical attention, especially among people at higher risk of complications.

In the US, many flu cases are seen between January and March, although influenza can circulate outside the peak season as well.

Doctors generally recommend flu vaccination around September or October to build protection before activity increases. It takes about two weeks for the body to develop protection after vaccination. Flu vaccination has been shown to reduce flu-related doctor visits by about 40% to 60%.

A mammogram is routinely used to detect early signs of breast cancer, but the imaging test may also provide clues about a woman’s cardiovascular health.

Cardiovascular disease is a major cause of death among women. Yet, experts say heart disease in women can be overlooked because symptoms and risk factors may differ from the patterns traditionally associated with men.

Why Heart Disease Can Be Missed In Women

Prof Rob Galloway of University Hospitals Sussex NHS Foundation Trust, writing in the Daily Mail, highlighted the need to identify cardiovascular disease in women earlier.

Citing a 2021 The Lancet study, he noted that women with cardiovascular disease remain “understudied, under-recognized, underdiagnosed, and undertreated.”

Galloway said he regularly sees women, particularly those in their 60s, arriving in emergency care with heart attacks after earlier symptoms were attributed to less serious causes.

“If that had been recognized, she could have been admitted, and if needed, had a stent (a mesh tube) inserted to open the artery before it was blocked,” he wrote.

“The truth is doctors are not as good as we should be at recognizing heart disease in women, or understanding their risk,” he added.

Also read: New Breast Cancer Guidelines Recommend Mammograms Every Two Years for Women

Heart Attack Symptoms May Look Different In Women

Women may experience heart attacks differently, with symptoms such as breathlessness, nausea, fatigue, or back, neck and jaw pain. Galloway also highlighted female-specific risk factors, which include:

• Preeclampsia or high blood pressure during pregnancy
• Gestational diabetes
• Premature menopause
• Polycystic ovary syndrome (PCOS)

He said these factors are not always routinely included when assessing a woman’s long-term cardiovascular risk.

What Can A Mammogram Reveal About Heart Risk?

Read More: World Heart Day: You Feel Healthy. But Plaque May Already Be Building In Your Arteries In Your 20s

Prof Galloway suggested that routine breast screening could potentially offer another opportunity to identify cardiovascular risk.

When blood vessels are damaged, calcium can accumulate in their walls. Mammograms can sometimes detect calcium deposits in the arteries of the breast, known as breast arterial calcification (BAC).

BAC is different from calcium buildup in the coronary arteries, but its presence has been associated with a higher risk of cardiovascular events such as heart attack and stroke. Some radiologists may therefore flag the finding to the treating doctor.

Could AI Detect Heart Risk From Mammograms?

Prof Galloway also discussed the potential role of artificial intelligence in identifying and measuring breast arterial calcification.

A European Heart Journal study used AI to assess mammograms from over 123,500 US women. Compared with no calcification, mild breast arterial calcification was linked to a 30% higher cardiovascular event risk, moderate to 75–80% higher risk, and severe to roughly three times higher risk.

The association persisted even after researchers accounted for established cardiovascular risk factors such as obesity and smoking.

Could Mammograms Become A Cardiovascular Screening Tool?

Prof Galloway said that the potential advantage is that the mammogram has already been performed for breast screening. If arterial calcification is identified, that information could potentially be included with the screening result and prompt a broader cardiovascular risk assessment.

Depending on the woman's overall risk, doctors could then consider measures such as more intensive management of blood pressure or cholesterol.

A coronary artery calcium scan is another way to assess calcium buildup in the arteries supplying the heart. It uses a CT scan to detect and measure coronary artery calcium and can help inform cardiovascular risk assessment in appropriate patients.