Does Your Little Monkey Have Alkaptonuria?
Today’s blog post is by Sorsha Roberts, online communications officer at the AKU Society. The AKU Society is a support and information network for people diagnosed with Alkaptonuria and their families.
Have you ever heard of alkaptonuria (AKU)? Most people haven’t, because it’s a very rare disease. However, it can be quite easy to tell if your little monkey has the disease. This is why we want to tell you all about it today.
AKU is a genetic disease affecting an estimated 1 in every half a million people. It is recessive, which means both parents have to carry the disease in their genes for the child to be affected. The disease causes early onset osteoarthritis, and it can be very painful and degenerative.
AKU is caused by the lack of an enzyme. This enzyme is usually there to break down a toxic acid called homeogentistic acid. Without the enzyme, this acid builds up in the body, damaging tissue and cartilage. AKU is also known as black bone disease, because it turns cartilage black and brittle.
Children with AKU lead normal, healthy childhoods. Patients only really start to experience back and joint pain in their 30s as the damage begins to set in. In childhood there is one main symptom to look out for.
Some of the acid in the body is excreted in the urine. When this is left standing, the acid reacts with oxygen in the air, and the urine turns a dark red-black colour. This is often noticeable in the nappies or potties of young children, or if a patient forgets to flush the toilet. This symptom is the reason AKU is also known as black urine disease.
Monkey Goes for a Wee
This is Monkey’s potty. Monkey uses his potty to go for a wee. When Monkey is finished he runs off to play.
When Monkey is finished playing he suddenly notices something.
He goes to take a closer look at his potty. Monkey sees his wee has turned a dark red colour. Monkey is worried, so he goes to tell his parents.
Mum asks Monkey if he has been pouring juice in to his potty. Monkey says no, so they go to the doctor…
As a parent, what can I do?
This is a very worrying symptom for parents to see in their children. In one case, a parent couldn’t believe it, and thought their child had been pouring juice in the potty. When it happened again they realised this wasn’t the case, and went to the doctor.
Because this disease is so rare, the doctor won’t always know what it is either. This is why we need to raise awareness. If you ever see this symptom in your child, the test for AKU is quite simple. The doctor needs to send off a urine sample to be tested for levels of homeogentistic acid. If the levels are high, this means your child has AKU.
Until very recently there was no treatment for this disease. However, we now have a specialised treatment centre- the National Alkaptonuria Centre (NAC) in Liverpool. Patients can be referred here from the age of 16, and attend every year. Here their health is closely monitored, and they are given an off label drug called nitisinone.
There is strong evidence this drug slows, or perhaps even stops the damage caused by AKU, by preventing the production of the toxic acid. The drug does not reverse damage, which is why it is so important to diagnose children early. If they take the drug from the age of 16, it could prevent them from suffering any of the painful symptoms of AKU.
At the AKU Society we work closely with patients, parents and carers to ensure they get the treatment and support they need. We work with the NAC in Liverpool, and we are also involved in clinical trials across Europe for the drug nitisinone. We hold patient workshops twice a year, and can even arrange home support visits.
Our involvement allows us to keep all patients up to date with the latest AKU news through our Twitter, Facebook, blogs, enews, and paper newsletters. We also have secure online communities where patients and parents can speak to one another about their experiences.
If you would like to find out more, visit our website, or get in touch by emailing me at firstname.lastname@example.org. If you would like to share this information with your doctor, we now have a free online learning module with RCGP. This is aimed at healthcare professionals, but is open access for anyone to use. Access it here.
Blog by Sorsha Roberts, Online Communications Officer at the AKU Society.
Monkey Wellbeing would like to thank Sorsha for contributing to the blog. You can follow the AKU Society on Twitter @AKUSociety.