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Hypothesis and case reports: possible thiamin deficiency.

D Lonsdale

    Journal of the American College of Nutrition
    |February 1, 1990
    PubMed
    Summary
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    This study reports a familial thiamin dependency state in three individuals with functional symptoms. Treatment with thiamin tetrahydrofurfuryl disulfide (TTFD) normalized erythrocyte transketolase (TKA) activity, resolving symptoms.

    Area of Science:

    • Biochemistry
    • Human Nutrition
    • Clinical Medicine

    Background:

    • Intracellular thiamin deficiency can cause functional symptoms.
    • Familial thiamin dependency is a rare condition.
    • Erythrocyte transketolase (TKA) activity is a marker for thiamin status.

    Observation:

    • Three family members presented with symptoms attributed to intracellular thiamin deficiency.
    • Despite high doses of thiamin hydrochloride (THCl) and multivitamins, TKA remained unsaturated.
    • Clinical improvement and TKA saturation occurred after administration of thiamin tetrahydrofurfuryl disulfide (TTFD).

    Findings:

    • A familial thiamin dependency state was identified.
    • TTFD effectively treated the observed thiamin deficiency symptoms.

    Related Experiment Videos

  • Restoration of erythrocyte transketolase (TKA) activity confirmed thiamin pyrophosphate (TPP) saturation.

    • Implications:

    • The findings suggest a potential genetic basis for thiamin metabolism dysfunction.
    • Dysautonomic symptoms observed in patients align with classical beriberi, supporting a thiamin-related etiology.
    • Further research is warranted to elucidate the precise biochemical defect, possibly involving thiamin malabsorption or impaired phosphorylation.