Abstract
Unexplained signs and symptoms in an acute situation can be due to a metabolic derangement, which needs specific biochemical tests and emergency treatments. This is certainly the case in neonates and young children with an unexplained encephalopathy. Using basic tests a differential diagnosis can be made, followed by more specialized tests in blood and urine. It is extremely important to think of the different diagnostic possibilities, especially in case of metabolic acidosis, hypoglycemia, hyperammonemia, etc.
A second condition is when patients present with intractable seizures. Here also it is necessary to make the correct diagnosis and treatment.
Thirdly in case of acute ataxia some late-onset metabolic diseases should be in the differential diagnosis.
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De Meirleir, L.J. (2014). Neurometabolic Crisis. In: Sejersen, T., Wang, C. (eds) Acute Pediatric Neurology. Springer, London. https://doi.org/10.1007/978-0-85729-491-3_9
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DOI: https://doi.org/10.1007/978-0-85729-491-3_9
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