The findings have just been published in the latest edition of the prestigious international journal Paediatrics.

The head of the Australian Rett Syndrome Study based at the Institute, Dr Helen Leonard, said the results had important implications for the care of girls with the syndrome.

Many of the girls had fractures of the femur which are particularly disabling given the limited mobility of many of these children, Dr Leonard said.

This information will be important for doctors and for families in both identifying fractures and endeavouring to find ways to prevent them where possible.

Dr Leonard said the study had found that girls with epilepsy and more severe forms of Rett syndrome were more likely to suffer fractures.

Our next step will be to try to identify the mechanism that is making the girls more susceptible to fractures which will include looking at the effect of the specific gene that's responsible for the syndrome and also the impact of the drug therapies used for epilepsy, Dr Leonard said.

The high incidence of fracture impacts on the quality of life, care needs and outcomes for this group and their families. We have shown previously that having a child with a fracture impacts in a negative way on the mother's mental health status.

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Professor Wright added: The discovery of this important new function for the SLC2A9 protein will aid the development of drugs which could lower blood uric acid levels and prevent or treat gout.

Original research paper: Vitart V et al. (2008). The major facilitator superfamily member SLC2A9 is a novel uric acid transporter influencing serum urate concentrations, urate excretion and gout. Nature Genetics.

Gout is the most common inflammatory arthritis in adult males. It is caused by high blood levels of uric acid. Uric acid crystals are deposited in the cartilage of joints, tendons and surrounding tissues and provoke an inflammatory reaction in these tissues. The condition causes burning pain, swelling, redness, warmness and stiffness in the affected joint.

Gout is more common in affluent societies due to a diet rich in refined sugars, proteins, and alcohol. Uric acid is formed from purine-rich foods such as seafood and from breakdown of the body ™s own chemicals. The kidneys are responsible for most of the excretion of uric acid. (Most mammals have an enzyme to break down uric acid called uricase and so they have much lower blood levels but this enzyme is not found in humans.)

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