Alkaptonuria
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.
Thiscan turn urine and parts of the body a dark colour andlead to a range of problems over time.
Normally, amino acids are broken down in a series of chemical reactions. But in alkaptonuria, a substance produced along the way homogentisic acid cannot be broken down any further.
This is becausethe enzyme that normally breaks it down doesn't work properly (enzymes are proteins thatmake chemical reactions happen).
One of the earliest signs of the condition is dark-stained nappies, as homogentisic acid causes urine to turn black when exposed to air for a few hours.
If this sign is missed or overlooked, the disorder may go unnoticed until adulthood, as there are usually no other noticeable symptoms until the person reaches their late 20s to early 30s.
Read about alkaptonuria, or "black urine disease", a rare inherited disorder that can turn urine and parts of the body a dark colour and lead to a range of other problems over time.
People with alkaptonuria have a normal life expectancy. However, they will usually experience severe symptoms, such as pain and loss of movement in the joints, which considerably impact on quality of
Over the course of many years, homogentisic acidslowly builds up in tissues throughout the body. Itcan build up in almost any area of the body, including the cartilage, tendons,bones, nails, ears and
If you or your child hasalkaptonuria, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps s
Each cell in the body contains 23 pairs of chromosomes. These carry the genes you inherit from your parents. One of each pair of chromosomes is inherited from each parent, which means (with the excep
Alkaptonuria is a lifelong condition there's currently no specific treatment or cure. However, amedicine called nitisinone has shown some promise, and painkillers and lifestyle changes may help you c
People with alkaptonuria have a normal life expectancy. However, they will usually experience severe symptoms, such as pain and loss of movement in the joints, which considerably impact on quality of
If you or your child hasalkaptonuria, your clinical team will pass information about you/your childon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps s
Over the course of many years, homogentisic acidslowly builds up in tissues throughout the body. Itcan build up in almost any area of the body, including the cartilage, tendons,bones, nails, ears and
Each cell in the body contains 23 pairs of chromosomes. These carry the genes you inherit from your parents. One of each pair of chromosomes is inherited from each parent, which means (with the excep
Alkaptonuria is a lifelong condition there's currently no specific treatment or cure. However, amedicine called nitisinone has shown some promise, and painkillers and lifestyle changes may help you c