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.

Lorna Luxe's Husband, 64, John Andrews passed away after a three-year-long cancer battle. On February 11, the British influencer shared a post on her Instagram. The 43-year-old wrote: "My beautiful, brave John died yesterday. I am heartbroken. We were together to the every end, at home, in our own bed and holding hands which is exactly what he wanted."

Lorna Luxe's Husband John Dies: What Happened To Him?

John, a former banker, was diagnosed with stage three cancer in 2023. He had been receiving treatment over the last three years. John's cancer also entered remission and it returned in 2024 and spread to his brain.

He underwent a surgery in 2025, however, he was back in hospital in December after a complication with his chemotherapy treatments. This led to organ failure.

In January this year, Lorna told her followers that she was "looking for a miracle" and shared that his cancer had "progressed to his other organs" and treatment was "no longer an option".

“I think he's possibly the bravest person. And I suppose at this point we're looking for a bit of a miracle and we're going to take each day as it comes,” she wrote on her post.

In her post that announced John's death, she wrote when she asked him how he was feeling, her husband responded, "Rough, but in love".

Read: Catherine O'Hara Cause Of Death Is Pulmonary Embolism; She Also Had Rectal Cancer

Lorna Luxe's Husband John Dies: Can Cancer Spread To Other Organs?

While John's cancer has not been specified, but the reports reveal that his cancer spread to other organs. According to National Institution of Health (NIH), US, the spreading of cancer to other parts of the body is called metastasis.

This happens when cancer cells break away from where they first formed, and travel through the blood or lymph system. This could lead to formation of new tumors in other parts of the body. Cancer can spread to anywhere in the body, however, it is common for cancer to move into your bones, liver, or lungs.

When these new tumors are found, they are made of the same cells from the original tumor. Which means, if someone has lung cancer and it spread to brain, the cells do not look like brain cancer. This means that the cancer cells in the brain is metastatic lung cancer.

Cancer cells could also be sent to lab to know the origin of the cell. Knowing the type of cancer helps in better treatment plan.

Lorna Luxe's Husband John Dies: Could Chemotherapy Lead To Organ Damage?

As per the University of Rochester Medical Center, in some cases, chemotherapy could cause permanent changes or damage to the heart, lungs, nerves, kidneys, and reproductive organs or other organs.

For instance, some anti-cancer drugs cause bladder irritation, it could result in temporary or permanent damage to kidneys or bladder. In other cases, chemotherapy could also have potential effects on nerves and muscles. Chemotherapy could also damage the chromosomes in the sperm, which could also lead to birth defects. In females, it could damage the ovaries and could result in short-term or long-term fertility issues.

Chemotherapy could also induce menopause before the correct age and could cause symptoms like hot flashes, dry vaginal tissues, sweating, and more.

Read: 'I Went Into Chemo-induced Menopause At 37', Says Lisa Ray About Her Cancer Journey And Its Side Effects

For some, it could also cause a 'chemo-brain', which is a mental fog that many chemotherapy patients face, that could affect memory or concentration.

Actress Bijou Phillips, 45, has turned to social media to seek a kidney, issuing an urgent request. In a recent social media post, the ‘Made for Each Other’ actress issued a heartfelt plea for a living kidney donor to help her navigate a the medical crisis.

Phillips framed her request not just as an actress, but through the lens of her family roles. "I’m asking as a friend, a sister, an aunt and most important, a single mother to an incredible and brave daughter," she said.

Why Does Bijou Phillips Need A Kidney Transplant?

In a post dated February 11, she explained that she was born with underdeveloped kidneys and spent 3 months in the NICU (Neonatal Intensive Care Unit). In 2017 she received her first kidney transplant which helped her for eight years. However, she faced many complications including the BK virus that led to cellular and antibody rejection.

BK virus, according to the National Kidney Foundation, is a common inactive virus in the body that can ‘wake up’ after a transplant.

It can cause blurred vision, change in the color of urine, pain or discomfort while urinating, trouble breathing, fever, muscle pain, frequent urination, as well as seizures.

What Causes Underdeveloped Kidneys?

Different conditions are known to cause either underdeveloped kidneys or the absence of one or both kidneys, Bilateral Renal Agenesis/Hypoplasia/Dysplasia. According to the PLOS One 2010 study, these 3 types of underdeveloped kidneys fall under the Congenital Anomalies of the Kidney and Urinary Tract or CAKUT. However there are a few differences.

Bilateral Renal Agenesis

This occurs when both kidneys fail to develop entirely. The study links this to "gene-free" chromosomal breaks and mutations in the Esrrg gene, which normally directs essential early kidney formation.

Renal Hypoplasia

The kidneys are present but significantly small or "underdeveloped." The research suggests this happens when genetic signals for "ductal tissue" are interrupted, preventing the kidneys from reaching their full, functional size.

Renal Dysplasia

This is an "abnormal" formation where kidney tissue is malformed. The study associates this with "laterality" errors, where the body's internal organization fails, causing kidneys to grow with structural defects.

What Are Signs of Underdeveloped Kidneys?

According to the Children’s Hospital of Philadelphia, kidney and urinary tract issues are usually spotted during a pregnancy ultrasound. When a problem is found, doctors watch the amniotic fluid levels closely, since that fluid is mostly made of the baby’s urine. If the issue isn't caught before birth, you might notice these signs in a baby or child:

• Frequent UTIs
• A swollen stomach
• Puffiness
• Stomach troubles
• Slow growth
• Low energy

Bijou Phillips’ Message For Supporters

Currently back on dialysis, Phillips is under the care of Dr. Anjay Rastogi at UCLA. She is actively searching for a living donor and has directed interested individuals to a screening link in her Instagram bio.

"Please help me find a living donor so that I can have more time with my daughter, family, friends," she wrote, expressing deep gratitude for the public's ongoing support.

Vitamin C is a star ingredient in the skincare world for some very good reasons. It can be hailed as a magic wand to evaporate your stubborn marks and give you a brighter complexion.

However, no matter what product you use, the results do not appear overnight. So, what do real results look like? What does a before-and-after journey of using a Vitamin C serum actually entail?

This guide covers everything about the before-and-after results of using the Vitamin C serum.

What Is Vitamin C Serum and How Does It Work on Skin?

It is a potent antioxidant that can be applied to your skin directly. It neutralises the effects of free radicals, which are tiny and unstable molecules caused by pollution and UV rays. They can easily damage your skin and accelerate ageing.

Vitamin C helps by boosting collagen production and improving skin tone. This is why the results of Vitamin C on the face are so dramatic. It changes the flat look of your skin to a healthy glow.

Key benefits include:

· Brightening: It blocks the enzyme responsible for producing pigment, leading to more radiant skin.

· Fading Marks: A remarkable ingredient for targeting sun damage and acne scars.

· Collagen Stimulation: It keeps your skin bouncy and firm.

· Protection: It provides a second layer of defence against environmental stress.

Before and After Vitamin C Serum: What to Expect on Your Face

Consistent use of the serum for several weeks, along with daily application of sunscreen with SPF 50 can yield noticeable results. Here’s what you can expect from it.

Before Using Vitamin C Serum

Your skin may show signs of environmental wear and tear before you start using a serum. The following are some common complaints:

· Your skin looks tired, even after a full night's sleep.

· You may have patchy skin or dark areas around the mouth and forehead.

· Old acne spots or sun freckles that refuse to fade.

· Skin that feels slightly rough or looks congested.

After Consistent Use

The changes in your face before and after using a vitamin C serum become evident after your skin integrates the serum into its renewal cycle:

· It will give you that lit-from-within look.

· Dark spots become significantly lighter and blend into your natural skin tone.

· Your skin feels more elastic and youthful due to increased collagen.

· The surface of your skin looks smoother.

Timeline of Vitamin C Serum Before and After Results

First Week: Initial Freshness & Surface Glow

There is little change in dark spots during the first few days. However, you may notice an immediate glow on your skin surface. The serum hydrates and smoothens the skin's surface, helping makeup sit better. Vitamin C for dark spots before and after signs are clearly visible.

2–4 Weeks: Brightening & Early Spot Lightening

You will start to see the before-and-after progress of vitamin C on dark spots around this stage. Its pigment-blocking properties start to kick in. You may notice that your overall skin tone looks fresher and that the edges of your dark spots are now fading.

4–8 Weeks: Visible Even Tone and Improved Texture

The difference between your face before after vitamin C serum will be more obvious by the end of the second month. The deeper layers of the skin benefit from the antioxidant protection. You can expect the following changes:

· Visibly less sun damage

· Even complexion, so you may not need concealer

· Fewer rough patches

8–12 Weeks: Long-Term Transformation

After 90 days, your skin has gone through multiple renewal cycles. Your Vitamin C serum before-and-after photos may show significant improvement in hyperpigmentation. Fine lines may reduce because of the increased collagen, as your skin looks the healthiest it has in years.

Tips to Maximize Your Vitamin C Serum Before and After Results

If you want your before-and-after vitamin C serum results to be impressive, you need to follow these simple rules:

1. Morning is Best: Apply your serum in the AM. This allows the antioxidants to protect your skin from pollution and sunlight throughout the day.

2. Pair with Sunscreen: Always follow up with a sunscreen. Vitamin C is not a replacement for sunblock, but it actually makes your sunscreen with SPF 50 more effective by neutralizing the rays that slip through.

3. Storing the Serum: Vitamin C is sensitive to light and air. Keep your bottle in a cool, dark place (such as a drawer) to ensure it does not lose its potency. If your serum has become dark or orange in colour, it may have been oxidised. So, it may not work well.

4. Consistency: You do not need a huge amount of serum. 3–4 drops are enough. You need to apply it every single day without skipping.

Final Thoughts

The journey of your face before and after Vitamin C serum can feel long, but the results are worth it. It can be exciting to see the initial glow. However, the real changes, such as fading deep dark spots and firming the skin, take time. Stick to a routine and pair your skin with a high-quality sunscreen to stay radiant and youthful.

The Healthandme team was not involved in authoring this story