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Lactic acidosis in childhood.

S Israels, J C Haworth, H G Dunn

    Advances in Pediatrics
    |January 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Investigating chronic metabolic acidosis in children is crucial for identifying organic acidemias, particularly lactic acid. Early diagnosis aids in managing rare conditions like Leigh syndrome and other metabolic disorders.

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    Area of Science:

    • Biochemistry
    • Pediatrics
    • Metabolic Disorders

    Background:

    • Chronic metabolic acidosis in children warrants investigation for organic acid presence, especially with anion deficits.
    • Lactic acid is a key organic acid to consider in such pediatric cases.

    Observation:

    • This essay focuses on chronic lactic acidosis in infancy, excluding hypoxia-related or exogenous causes.
    • Rare causes include glycogen storage disease Type 1, fructose diphosphatase deficiency, and various acidemias.
    • An idiopathic group of chronic lactic acidosis exists, likely with diverse metabolic origins.

    Findings:

    • Leigh syndrome (SNE) involves a block in thiamine triphosphate formation, linked to an inhibitor of TPP-ATP phosphoryl transferase.
    • Elevated lactate, pyruvate, and alanine are common in SNE, but their causal role in pyruvate catabolism is unclear.

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  • Disturbed lactate and pyruvate metabolism is also seen in other conditions like mitochondrial myopathies and Wernicke's encephalopathy.

    • Implications:

    • Identifying specific organic acidemias is vital for targeted pediatric metabolic disorder management.
    • Understanding the role of pyruvate metabolism disturbances can improve diagnosis and treatment strategies.
    • Further research into idiopathic chronic lactic acidosis may reveal novel metabolic pathways and therapeutic targets.