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Pathologic alterations in the brain and liver in hyperpipecolic acidemia.

V R Challa, K R Geisinger, B K Burton

    Journal of Neuropathology and Experimental Neurology
    |November 1, 1983
    PubMed
    Summary

    Hyperpipecolatemia, a defect in lysine metabolism, caused progressive neurological issues and liver damage in two brothers. Autopsy revealed distinctive granule accumulation in brain astrocytes and liver cells, suggesting a novel storage disorder.

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    Area of Science:

    • Biochemistry
    • Neurology
    • Pediatrics

    Background:

    • Pipecolic acid, a lysine metabolite, has an unknown role in the human central nervous system.
    • Lysinuric protein intolerance and Zellweger's syndrome involve altered pipecolate metabolism.

    Observation:

    • Two young brothers presented with dysmorphic features, progressive neurological decline, and hepatomegaly.
    • Autopsy of the older brother revealed increased brain weight, putamen pallor, and unique PAS-positive granules in astrocytes.
    • Electron microscopy confirmed the absence of these granules in neurons and identified similar inclusions in the liver.

    Findings:

    • The biochemical defect was identified as hyperpipecolatemia.
    • Distinctive astrocytic and hepatic storage of granular material was observed.

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  • The findings suggest a novel inherited metabolic disorder affecting pipecolic acid metabolism.

    • Implications:

    • This study elucidates the pathological consequences of hyperpipecolatemia.
    • Understanding these changes aids in diagnosing and potentially treating related neurological and liver disorders.
    • Further research into pipecolic acid's CNS role is warranted.