Rare 'black bone' disease symptoms as 'silent' condition can go undiagnosed for years
dailyrecord.co.ukAn ultra rare disease that can severely damage the bones and organs exhibits an array of symptoms that can be easily missed.Alkaptonuria is a genetic condition that affects one-in-a-million people across the world and can drastically lower an adult's quality of life.
It causes a patient's bones and cartilage to darken over time from chemical build-up and is sometimes called "black bone" and "black urine" disease.While it currently has no cure, there are treatments available that can slow its progression - for those who are aware of it.
As such, knowing more about Alkaptonuria and its warning signs may help those unknowingly suffering get a diagnosis.According to the NHS, the condition prevents the body from breaking down two amino acids - building blocks of the cell - called tyrosine and phenylalanine.
This then causes a build-up of a chemical named homogentisic acid which can lead to health problems such as heart disease, spinal collapse, kidney stones and more.It can be detected early on if parents notice dark stains appearing in their children's nappies, which appear after a few hours from air exposure.
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