Možný liek – Nitisinone

Liek nitisinone is being researched as the first potential treatment for alkaptonuria (AKU). Previous research has shown that nitisinone can reduce the levels of homogentisic acid (HGA) by up to 95%. Animal models have shown that, if administered early enough, nitisinone could potentially prevent the disease from developing.

The US National Institutes of Health (NIH) began a three-year clinical trial of nitisinone in April 2005. Unfortunately, the results were inconclusive and more work needs to be done before the drug can be approved as a treatment for AKU.

We are involved in a series of clinical trials called DevelopAKUre, lasting five-and-a-half years. These will determine if nitisinone can help patients with AKU. If successful, we will apply to get the drug licensed as a treatment for alkaptonuria. If you are interested in taking part or learning more, please contact Hana Ayoob, our Clinical Trials Coordinator, by emailinghana@akusociety.org. Further information can also be found on our clinical trials microsite,www.developakure.eu.

As nitisinone is licensed for another rare disease, doctors can prescribe it to AKU patients off-label. We currently prescribe nitisinone off-label to English and Scottish patients who attend theNational AKU Centre (NAC) in Liverpool. To find out more about the NAC, contact  Lesley Harrison, our Patient Support Officer, by emailing her at lesley@akusociety.org.

Iné spôsoby liečby

Riadenie bolesti

Joint pain is a serious and debilitating symptom of AKU. Inadequate pain control may lead to limited use of the affected joint, reducing its range of movement.

Physical and occupational therapy are important to maintain muscle strength and flexibility. A programme of swimming or hydrotherapy is ideal, since this puts less stress on the joints. Avoiding manual labour or high impact sports, which can stress the spine and large joints, may help delay the progression of osteoarthritis.

Regular use of anti-inflammatory drugs (NSAID), in combination with painkillers, can help manage alkaptonuria. Joint replacement surgery is also used as a form of pain relief when joints become too damaged. Some AKU patients may also require surgery for kidney, bladder or prostate stones.


There are anecdotal reports that a diet low in protein can delay joint problems. However, there have been no formal clinical trials and there is no proof it is beneficial. Maintaining a low-protein diet is extremely difficult to do.

Some alkaptonuria patients take vitamin C as an anti-oxidant. However, this has not been shown to have any effect. In lab experiments with guinea pigs induced to have AKU, vitamin C appears to prevent disease. However, vitamin C has no proven effect in humans.

Our partners at the University of Siena in Italy are conducting research into combinations of anti-oxidants as a potential treatment for AKU.

Patients who attend the National AKU Centre undergo a low protein diet, to help control their elevated tyrosine levels from taking the drug nitisinone. This is to reduce the risk of any potential side effects. Patients are placed on individual low protein diets, monitored by a specialist AKU dietitian.


Staying active with light exercise can help slow the progression of osteoarthritis, as it keeps joints healthier. Contact sports, which put strain on the joints, should be avoided. Many patients feel they benefit from swimming and hydrotherapy, reporting reduced joint pain and stiffness. Physiotherapy can also be good for AKU patients.

Výmena kĺbových spojení

Alkaptonuria causes extreme wear and tear on the joints, so many patients have joint replacements. This helps to relieve pain for a short time and increases mobility. It is important to speak to your doctor and be referred to a specialist if you need a joint replacement. Most of our patients have at least one joint replacement in their lifetime, often many more. If you are going for a joint replacement in the UK, find out more about the National Joint Registry (NJR). The NJR collects information on joint replacement surgery and monitors the performance of artificial joints. Your surgeon or specialist should tell you more about the NJR before your joint replacement.

Riziko choroby srdca

After the age of 40, patients should be monitored for possible heart complications related to AKU. An echocardiogram (ECG) can detect problems with the heart valves and a CT scan of the chest can detect problems with the arteries.

Blood pressure can be controlled with medication. Valve replacement surgery is possible if heart disease reaches an unmanageable level.

Please note: All information on this page has been approved by a medical professional who specialises in AKU. The AKU Society cannot give medical advice as it is not a medical body.