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A liver urocanase deficiency.

Z Kalafatic, K Lipovac, Z Jezerinac

    Metabolism: Clinical and Experimental
    |October 1, 1980
    PubMed
    Summary
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    This study presents two sisters with urocanase deficiency, a rare inborn error of histidine metabolism. This condition is distinct from the more common histidinemia caused by histidase deficiency.

    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Inborn errors of amino acid metabolism represent a significant area of clinical and research interest.
    • Histidine metabolism is complex, with several known genetic disorders affecting its pathways.
    • Familial histidinemia, typically caused by histidase deficiency, is the most recognized disorder in this pathway.

    Purpose of the Study:

    • To present and characterize a rare inborn error of histidine metabolism.
    • To differentiate this condition from the more common familial histidinemia.
    • To provide diagnostic evidence for urocanase deficiency.

    Main Methods:

    • Clinical case presentation of two affected sisters.
    • Biochemical analysis of urinary metabolites to identify enzyme product accumulation.

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  • Enzymatic assays on liver tissue to confirm urocanase deficiency and rule out histidase deficiency.

    • Main Results:

    • Demonstration of increased excretion of metabolites downstream of urocanase activity.
    • Confirmation of deficient urocanase enzyme activity in liver tissue.
    • Normal histidase activity in liver tissue, excluding histidinemia.

    Conclusions:

    • Urocanase deficiency is a distinct and rare inborn error of histidine metabolism.
    • Diagnostic criteria include metabolite analysis and direct enzyme assays.
    • This finding expands the spectrum of known disorders in histidine metabolism.