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Multiple enzyme defects in familial hyperlysinemia

J Dancis, J Hutzler, N C Woody

    Pediatric Research
    |July 1, 1976
    PubMed
    Summary
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    Familial hyperlysinemia is linked to lysine-ketoglutarate reductase deficiency. Unexpectedly, saccharopine dehydrogenase and oxidoreductase activities were also absent in affected patients, suggesting a broader metabolic defect.

    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Familial hyperlysinemia is a rare genetic disorder characterized by elevated lysine levels.
    • Lysine-ketoglutarate reductase deficiency in skin fibroblasts was previously identified as the cause.
    • The exact enzymatic defect and its full extent were not fully understood.

    Purpose of the Study:

    • To investigate the enzymatic basis of familial hyperlysinemia.
    • To confirm lysine-ketoglutarate reductase deficiency in affected individuals.
    • To identify any other potential enzymatic deficiencies contributing to the disorder.

    Main Methods:

    • Autopsy liver tissue and skin fibroblasts from familial hyperlysinemia patients were analyzed.
    • Enzyme activities of lysine-ketoglutarate reductase, saccharopine dehydrogenase, and saccharopine oxidoreductase were measured.

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  • Experiments were conducted to test if saccharopine dehydrogenase is substrate-inducible.

    • Main Results:

    • Confirmed lysine-ketoglutarate reductase deficiency in patient liver and fibroblasts.
    • Unexpectedly found a complete absence of saccharopine dehydrogenase and saccharopine oxidoreductase activity in affected tissues.
    • Enzyme deficiencies were consistent across multiple patients from different families.
    • Saccharopine dehydrogenase activity was not significantly altered by substrate manipulation, indicating it is not substrate-inducible.

    Conclusions:

    • Familial hyperlysinemia involves deficiencies in lysine-ketoglutarate reductase, saccharopine dehydrogenase, and saccharopine oxidoreductase.
    • These findings suggest a more complex metabolic pathway defect than previously recognized.
    • The absence of saccharopine dehydrogenase and oxidoreductase activities points to a potential shared regulatory mechanism or a single underlying genetic cause affecting multiple enzymes.