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[Enzymopathic congenital hyperlactacidemia].

J P Leroux, C Marsac, J M Saudubray

    Annales De Biologie Clinique
    |January 1, 1976
    PubMed
    Summary
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    Congenital enzymopathic hyperlactacidemia, a genetic disorder affecting pyruvate utilization, leads to elevated blood lactate levels. Early diagnosis through functional tests and enzyme analysis is crucial for managing these metabolic disorders.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Context:

    • Congenital enzymopathic hyperlactacidemia encompasses genetic disorders affecting pyruvate metabolism.
    • These conditions arise from defects in pyruvate utilization or related metabolic pathways.
    • Affected individuals present with varying clinical manifestations, including hypoglycemia, hepatomegaly, and neurological issues.

    Purpose:

    • To elucidate the biochemical basis of congenital enzymopathic hyperlactacidemia.
    • To differentiate between hyperlactacidemia associated with neoglucogenesis defects and those affecting the pyruvate junction/Krebs cycle.
    • To highlight diagnostic approaches and the significance of blood lactate measurement.

    Summary:

    • Defects in pyruvate utilization lead to congenital enzymopathic hyperlactacidemia.

    Related Experiment Videos

  • Enzymopathies affecting neoglucogenesis cause hyperlactacidemia, hypoglycemia, and hepatomegaly (e.g., Von Gierke's disease).
  • Pyruvate junction/Krebs cycle defects manifest as neuropathies or severe lactic acidosis, with varying lactate levels.

    • Impact:

    • Functional investigations and tissue biopsies are essential for enzyme diagnosis.
    • Accurate diagnosis guides management of these rare metabolic diseases.
    • Understanding pathogenesis underscores the importance of blood lactic acid testing in hereditary metabolic acidosis.