Diagnostic Procedures: Function Tests and Postmortem Protocol

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

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.

Keywords

Corn Lactate Cortisol Heparin Adenosine 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Touati G, Rigal O, Lombes A et al. (1997) In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child 76: 16–21PubMedCrossRefGoogle Scholar
  2. 2.
    Poggi-Travert F, Martin D, Billette de Villemeur T et al. (1996) Metabolic intermediates in lactic acidosis: compounds, samples, and interpretation. J Inher Metab Dis 19: 478–488PubMedCrossRefGoogle Scholar
  3. 3.
    Bonnefont JP, Specola NB, Vassault A et al. (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo-and hyperketotic states. Eur J Pediatr 150: 80–85PubMedCrossRefGoogle Scholar
  4. 4.
    Fernandes J, Huying F, Van de Kamer JH (1969) A screening method for liver glycogen diseases. Arch Dis Childh 44: 311–317PubMedCrossRefGoogle Scholar
  5. 5.
    Ching-Shiang Chi, Suk-Chun Mak, Wen-Jye Shian, ChaoHuei Chen (1992) Oral glucose lactate stimulation in mitochondria(diseases. Pediatr Neurol 8: 445–449PubMedCrossRefGoogle Scholar
  6. 6.
    Steinmann B, Gitzelmann R (1981) The diagnosis of hereditary fructose intolerance. Heiv Paediatr Acta 36: 297–316Google Scholar
  7. 7.
    Costa CCG, Tavares de Almeida I, Jakobs C, Poll-The BT, Duran M (1999) Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in normal children. Pediatr Res 46: 440–444PubMedCrossRefGoogle Scholar
  8. 8.
    Ponzone A, Guardamagna O, Spada M et al. (1993) Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 152: 655–661PubMedCrossRefGoogle Scholar
  9. 9.
    Kono N, Tarui S (1990) The exercise test. In: Fernandes J, Saudubray J-M, Tada K (eds) Inborn metabolic diseases. Diagnosis and treatment. Springer, Berlin Heidelberg New YorkGoogle Scholar
  10. 10.
    Kono N, Mineo I, Shimizu T et al. (1986) Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency. Neurology 36: 106–108PubMedCrossRefGoogle Scholar
  11. 11.
    Kronick JB, Scriver CR, Goodyer PR, Kaplan PB (1983) A perimortem protocol for suspected genetic disease. Pediatr 71: 960–963Google Scholar
  12. 12.
    Helweg-Larsen K (1993) Postmortem protocol. Acta Paediatr [Suppi] 389: 77–79CrossRefGoogle Scholar
  13. 13.
    Poggi F, Rabier D, Vassault A et al. (1994) Protocole d’investigations métaboliques dans les maladies héréditaires du métabolisme. Arch Pediatr 1: 667–673PubMedGoogle Scholar
  14. 14.
    Rashed MS, Ozand PT, Bennett J et al. (1995) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41: 1109–1114PubMedGoogle Scholar
  15. 15.
    Brookes JAS, Hall-Craggs MA, Sams VR, Lees WR (1996) Non-invasive perinatal necropsy by magnetic resonance imaging. Lancet 348: 1139–1141PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

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

There are no affiliations available

Personalised recommendations