Alkaptonuria
How alkaptonuria is inherited
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 exception of the sex chromosomes) there are two copies of each gene in each cell.
The gene involved in alkaptonuria is the HGD gene.This provides instructions for makingan enzyme calledhomogentisate oxidase, which is needed to break downhomogentisic acid.
You need to inherit two copies of the faulty HGD gene (one from each parent) to develop alkaptonuria. The chances of this are slim, which is why the disease is very rare affecting just1 in 250,000 to 500,000 people worldwide, and only around 64 people in total in the UK.
The parents of a person with alkaptonuria will often only carry one copy of the faulty gene themselves, which means they won't have any signs or symptoms of the condition.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
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.
Outlook
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
Signs and symptoms in adults
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
Information about you
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
How alkaptonuria is inherited
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
How alkaptonuria is managed
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
Outlook
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
Information about you
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
Signs and symptoms in adults
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
How alkaptonuria is inherited
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
How alkaptonuria is managed
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
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