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Lesch-Nyhan syndrome: evidence for abnormal adrenergic function.

S Rockson, R Stone, M Van der Weyden

    Science (New York, N.Y.)
    |December 6, 1974
    PubMed
    Summary

    Lesch-Nyhan syndrome, a genetic disorder, is linked to unique adrenergic dysfunction, including high dopamine beta-hydroxylase levels and no pressor response. Partial enzyme deficiency without self-mutilation does not show these adrenergic abnormalities.

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    Area of Science:

    • Biochemistry
    • Neuroscience
    • Genetics

    Background:

    • Lesch-Nyhan syndrome is an inherited disorder caused by hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
    • This deficiency is associated with compulsive self-mutilation and neurological impairment.
    • Adrenergic system function in Lesch-Nyhan syndrome has not been fully elucidated.

    Purpose of the Study:

    • To investigate the adrenergic dysfunction in patients with Lesch-Nyhan syndrome.
    • To compare adrenergic function in patients with complete HPRT deficiency (Lesch-Nyhan syndrome) versus partial HPRT deficiency.
    • To determine if self-mutilation is associated with specific adrenergic abnormalities.

    Main Methods:

    • Assessed plasma dopamine beta-hydroxylase (DBH) activity in subjects.

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  • Evaluated pressor response to acute sympathetic stimulation.
  • Compared findings between Lesch-Nyhan syndrome patients and patients with partial HPRT deficiency.

    • Main Results:

    • Subjects with Lesch-Nyhan syndrome demonstrated elevated plasma DBH activity.
    • These subjects also showed an absence of pressor response to sympathetic stimulation.
    • Patients with partial HPRT deficiency (without self-mutilation) did not exhibit these adrenergic abnormalities.

    Conclusions:

    • Lesch-Nyhan syndrome is associated with a distinct pattern of adrenergic dysfunction.
    • Elevated plasma DBH and lack of pressor response are characteristic of this syndrome.
    • These adrenergic abnormalities appear specific to the complete HPRT deficiency associated with self-mutilation.