Diagnostic Procedures: Function Tests and Postmortem Protocol

  • J. Fernandes
  • J.-M. Saudubray
  • J. Huber


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.


Free Fatty Acid Ketone Body Test Indication Fluoride Salt Organic Acidemia 
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© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • J. Fernandes
  • J.-M. Saudubray
  • J. Huber

There are no affiliations available

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