Alkaptonuria
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 cope with the symptoms.
Nitisinone
Nitisinone is not licensed for alkaptonuria it's offered "off label" at the National Alkaptonuria Centre , the treatment centre for all alkaptonuria patients based at Royal Liverpool University Hospital.
Nitisinone reduces the level of homogentisic acid in the body. It's currently an experimental treatment,butresearch intoits effectiveness is ongoing and there have been some promising results so far.
The AKU Society has information on DevelopAKUre, a clinical trial programme for nitisinone. Register your interest for DevelopAKUre .
Diet
If thecondition isdiagnosed in childhood, it may be possible to slow its progression by restricting protein in the diet, as this may reduce levels of tyrosine and phenylalanine in your body.
A low-protein diet can also be useful inreducing the risk of potential side effects ofnitisinone during adulthood. Your doctor or dietitiancan advise you about this.
Exercise
If alkaptonuria causes pain and stiffness, you may think exercise will make your symptoms worse. Butregular gentle exercise can actually help by building muscle andstrengthening yourjoints.
Exercise is also good for relieving stress, losing weight and improving your posture, all of which can ease your symptoms.
The AKU Society recommends avoiding exercise that puts additional strain on the joints, such as boxing, football and rugby, and trying gentle exercise such as yoga , swimming and pilates instead.
Your GP or a physiotherapistcan help you come up with a suitable exercise plan to follow at home. It's important to follow this plan as there's a risk the wrong sort of exercise may damage your joints.
Pain relief
Speak to doctor about painkillers and other techniques to manage pain. You may want to try transcutaneous electrical nerve stimulation (TENS) , where a machine is used to numb the nerve endings in your spinal cord and reduce pain. This treatment is usually arranged by a physiotherapist.
Read about living with pain .
Emotional support
A diagnosis of alkaptonuria canbe confusing and overwhelming at first. Like many people with a long-term health condition, those who find out they have alkaptonuria may feel anxious or depressed.
But there are people you can talk to who can help. Talk to your GP if you feel you need support to cope with your illness. You could also visit the AKU Society website, a charity offering support to patients, their families and carers.
Surgery
Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.
Read about some common procedures:
- hip replacement
- knee replacement
- aortic valve replacement
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
Subscribe
Ask the doctor
Rate this article
Find products