Abstract
The best function test is elicited by nature itself during acute metabolic stresses, such as those caused by an acute infection, inadvertent fasting, or consumption of a nutrient for which a metabolic intolerance exists. As discussed in Chap. 1, if symptoms lead one to suspect the existence of an inborn metabolic disease, blood, urine, and cerebrospinal fluid should be investigated and/or stored in the correct way to perform the emergency protocol (Table 1.1). If no material is available or if the results are incomplete or ambiguous, a function test that challenges a metabolic route may provide a tentative diagnosis.
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Fernandes, J., Saudubray, JM., Huber, J. (2000). Diagnostic Procedures: Function Tests and Postmortem Protocol. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_2
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DOI: https://doi.org/10.1007/978-3-662-04285-4_2
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