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Related Experiment Videos

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

F Poggi-Travert1, D Martin, T Billette de Villemeur

  • 1Department of Pediatrics, Hôpital Necker Enfants-Malades, Paris, France.

Journal of Inherited Metabolic Disease
|January 1, 1996
PubMed
Summary

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Diagnosing inborn errors of metabolism requires ruling out acquired conditions and careful sample collection. Metabolic profiles, particularly lactate/pyruvate (L/P) and 3-hydroxybutyrate/acetoacetate (B/A) ratios, aid in identifying specific disorders like PDH, PC, or KGDH deficiencies.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Clinical Diagnostics

Background:

  • Hyperlactacidaemia can stem from various acquired conditions, necessitating their exclusion before considering inborn errors of metabolism.
  • Accurate sample collection is crucial to prevent artefacts in lactate/pyruvate (L/P) and 3-hydroxybutyrate/acetoacetate (B/A) ratio measurements.

Purpose of the Study:

  • To outline diagnostic approaches for inborn errors of metabolism using metabolic profiles.
  • To differentiate between various metabolic disorders based on L/P and B/A ratios and associated metabolic findings.

Main Methods:

  • Analysis of 24-hour L/P and B/A ratios in patient samples.
  • Interpretation of metabolic profiles, including lactate, pyruvate, ketone bodies, amino acids, and organic acids.

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  • Exclusion of acquired conditions like infections, anoxia, and dehydration.

    • Main Results:

    • Normal or low L/P ratios suggest pyruvate dehydrogenase (PDH) deficiency.
    • Very high L/P ratios with hyperketonaemia and normal/low B/A ratios indicate pyruvate carboxylase (PC) or alpha-ketoglutarate dehydrogenase (KGDH) deficiency.
    • Elevated L/P and B/A ratios with hyperketonaemia suggest respiratory-chain disorders.

    Conclusions:

    • Metabolic profiling, especially L/P and B/A ratios, is a valuable diagnostic tool for inborn errors of metabolism after excluding acquired causes.
    • Specific metabolic profiles can strongly suggest or rule out certain disorders, aiding differential diagnosis.
    • Interpretation requires caution in critically ill patients, and a normal profile does not exclude all inborn errors.