Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition , which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people worldwide.
What is black bone disease?
Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition , which can cause significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people worldwide.
Can your bones turn black?
AKU is also known as Black Bone Disease. This is because an acid in the body accumulates at 2,000 times the normal rate, attacking the bones and turning them black and brittle. It causes severely debilitating osteoarthritis, heart disease, and other serious health complications.
What is the cause of Alkaptonuria?
The gene involved in alkaptonuria is the HGD gene . This provides instructions for making an enzyme called homogentisate oxidase, which is needed to break down homogentisic acid. You need to inherit two copies of the faulty HGD gene (one from each parent) to develop alkaptonuria.
What does bone disease feel like?
What are the signs of bone problems? Bone symptoms include bone pain, lumps, and brittleness . Bone pain can result from cancer, problems with the circulatory system, metabolic bone disorders, infection, repetitive use, or injury.
What are the symptoms of black bone disease?
- dark spots in the sclera (white) of your eyes.
- thickened and darkened cartilage in your ears.
- blue speckled discoloration of your skin, particularly around sweat glands.
- dark-colored sweat or sweat stains.
- black earwax.
- kidney stones and prostate stones.
What disease turns urine black?
Alkaptonuria , or “black urine disease”, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.
Is Alkaptonuria fatal?
Alkaptonuria patients develop arthritis and often suffer from other diseases too, including cardiovascular and kidney disease. Fatal alkaptonuria cases are infrequent , and death often results from kidney or cardiac complications.
What causes black urine and muscle pain?
Rhabdo
What does it mean when your ear turns black?
Dark or black earwax isn’t a sign you have poor hygiene or that you’re not clean. It is, however, a sign you should clean your ear canals of earwax buildup and possibly see your doctor. Black earwax may be an indication you have a wax buildup . Your ears may not naturally clean themselves the way they should.
Is Myeloma bone pain constant?
Bone pain. Multiple myeloma can cause pain in affected bones – usually the back, ribs or hips. The pain is frequently a persistent dull ache, which may be made worse by movement.
How can I stop bone pain?
- Hot or cold packs, or a combination of the two, can soothe sore areas. ...
- Eat a healthy diet that includes enough calcium and vitamin D to keep your bones as strong as they can be.
- Maintain a healthy weight to ease stress and strain on your joints.
- Exercise regularly.
What disease eats away at your bones?
Gorham-Stout disease (GSD) , which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) and the overgrowth (proliferation) of lymphatic vessels.
What is Gaucher disease?
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited) . When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms.
What is MSUD?
Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into amino acids.
What causes bone discoloration?
Finding discolored bone intraoperatively can be confusing and concerning to orthopedic surgeons. Multiple causes of pigmented bone exist, including ochronosis, metabolic bone diseases, metal deposits, sequestrum, metastatic disease, and minocycline use .
