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Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase

S D Cederbaum, J P Blass, N Minkoff

    Pediatric Research
    |August 1, 1976
    PubMed

    Insights

    A genetic disorder caused severe lactic acidosis in a child on a high-carbohydrate diet, highlighting pyruvate metabolism defects. This condition, linked to pyruvate dehydrogenase deficiency, can be life-threatening, especially with specific dietary triggers.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Investigating rare metabolic disorders affecting pyruvate metabolism.
    • Understanding the genetic basis of neurological and growth impairments.

    Observation:

    • A child presented with severe developmental delays and neurological damage.
    • Minimal blood pyruvate and lactate levels were observed on a normal diet.
    • A high-carbohydrate diet induced life-threatening lactic acidosis.

    Findings:

    • The patient exhibited significantly elevated blood pyruvate levels during a glucose tolerance test compared to controls.
    • Two sisters with similar clinical courses died from spontaneous lactic acidosis.
    • This suggests a defect in pyruvate metabolism, possibly pyruvate dehydrogenase deficiency.

    Implications:

    • Dietary management is crucial for patients with pyruvate metabolism defects.
    • Early diagnosis and intervention can prevent severe metabolic crises.
    • Further research into pyruvate dehydrogenase complex deficiencies is warranted.

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