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What is a metabolic disease? A metabolic disease occurs when the metabolism process fails, and the body has an imbalance of essential substances needed to stay healthy, while many people are familiar with common metabolic diseases such as obesity or diabetes there are inborn errors of metabolism that impact a small number of people in the community.
Inborn errors of metabolism are rare and inherited disorders where the body cannot properly turn food into energy. A food product that is not broken down into energy can build up and cause a wide range of symptoms including developmental delays or other medical problems.
At the Mater Queensland Diabetes and Endocrine Clinic, Dr Janelle Nisbet specialises in treating inborn errors of metabolism with a multidisciplinary team of experts who work collaboratively with the Queensland Children’s Hospital (QCH) providing a continuum of care and lifelong treatment plans.
"Our clinic is a life span service, inborn metabolic diseases have no cure and our patients will need lifelong treatment to manage their conditions appropriately,” Janelle explains.
“Fortunately, today many metabolic diseases are picked up just after birth, with the heel prick test done on newborns while they are still in hospital. We can pick up and manage these diseases early in life and refer the children to QCH for treatment.
“Once the children reach adulthood their care is transferred back to Mater where a team of adult and paediatric physicians, clinical nurses, dietitians and psychologists work together to manage their care. We also work very closely with the Neurology, Endocrinology, Ophthalmology, Dermatology and Mothers departments.”
Janelle explains the most common metabolic disease they treat is Phenylketonuria (PKU) an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
“Phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems including, seizures, behavioural problems, developmental delays and psychiatric disorders,” she said.
“People with PKU have a very restricted diet and can not eat protein, it’s a vegan diet but with no legumes or nuts. We treat all adults with PKU in Queensland and northern New South Wales.
“We also treat other diseases including mitochondrial diseases, porphyria diseases, urea cycle disorders and organic acidaemias, it’s a highly specialised area of medicine and we have around 400 patients in our care.”
Janelle also stresses the importance of managing metabolic diseases during pregnancy, she also specialises in Obstetric Medicine and can expertly manage a woman for the duration of her pregnancy to ensure the health of the mother and her baby.
Find out more
To find out more about the Mater Queensland Diabetes and Endocrine Centre (QDEC), you can visit the website here or call 07 3163 2500, referrals to the centre can be made through a GP.
07 3163 1524
07 3163 6142
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