![]() Here, we show that rapid brain leucine accumulation displaces other essential amino acids resulting in neurotransmitter depletion and disruption of normal brain growth and development. Using recently developed mouse models of classic and intermediate maple syrup urine disease, we assessed biochemical, behavioural and neuropathological changes that occurred during encephalopathy in these mice. The mechanisms underlying this decompensation and brain injury are poorly understood. Despite careful management, children commonly suffer metabolic decompensation in the context of catabolic stress associated with non-specific illness. Treatment requires life-long dietary restriction and monitoring of branched-chain amino acids to avoid brain injury. Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with life-threatening cerebral oedema and dysmyelination in affected individuals. Zinnanti, William J Lazovic, Jelena Griffin, Kathleen Skvorak, Kristen J Paul, Harbhajan S Homanics, Gregg E Bewley, Maria C Cheng, Keith C Lanoue, Kathryn F Flanagan, John M Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings.ĭual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Patients typically present with skin and urine smelling like maple syrup. These patients typically present with distinctive maple syrup odour of sweat and urine. This disease, if left untreated, may cause damage to the brain and may even cause death. Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. Indiran, Venkatraman Gunaseelan, R Emmanuel Neuroradiological findings in maple syrup urine disease. Here we describe a case with relevant magnetic resonance imaging findings and confirmatory biochemical findings. ![]() ![]() Neuroradiological findings in maple syrup urine disease ![]()
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