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Claiming CPD Relevance
Maple Syrup Urine Disease (MSUD)
”A disorder of protein metabolism involving leucine, isoleucine and valine metabolism. Named because of the sweet smell of the urine when blood levels of these amino acids are high (but nothing to do with the food maple syrup).
Maple syrup urine disease is an autosomal recessive inherited disorder based on a genetic mutation of the branched-chain 2-ketoacid dehydrogenase complex, which is responsible for the metabolism of the essential branched-chain amino acids leucine, isoleucine and valine. This causes an accumulation of these amino acids, along with severe neurological damage.”
Diagnosis is usually made with routine post-birth blood screening. However “…A type of MSUD called Intermittent MSUD cannot be detected by the newborn screening test because levels rise only with illness. These children may become very unwell during an illness and require hospitalisation. Diagnosis may be made during this time, or if there are problems with a child’s development.”
MSUD is quite rare – it is found in 1:150,000 babies in Australia and New Zealand.
Treatment involves protein management in the diet – limiting breast milk or usual formula intake and supplementing with specialist formula. As the child moves onto solids then there are a number of dietary modifications that need to be managed. Parents of children with MSUD will have a long relationship with a dietician.
Problems arise when there is an acute illness and it is critical that specialist medical intervention is sought should symptoms indicate there is a build-up essential branched-chain amino acids leucine, isoleucine and valine. The child may be sleepy which can quickly move to non-responsive. It is critical that medical intervention is sought.
Interesting video to assist with client education
More information – inclusive of a great handbook for parents can be found on the Metabolic Dietary Disorders Association website https://www.mdda.org.au/diagnosis/msud/