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Enzyme studies in biotin-responsive disorders.

K Bartlett, H K Ghneim, H J Stirk

    Journal of Inherited Metabolic Disease
    |January 1, 1985
    PubMed
    Summary
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    Combined carboxylase deficiency arises from two main causes: holocarboxylase synthetase mutations or biotinidase deficiency. Both conditions impact biotin-dependent enzymes and respond to biotin supplementation.

    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Enzymology

    Background:

    • Combined carboxylase deficiency presents with multiple biotin-dependent enzyme defects.
    • Two primary etiological pathways are identified, affecting biotinylation processes.

    Purpose of the Study:

    • To elucidate the underlying causes of combined carboxylase deficiency.
    • To understand the enzymatic defects and metabolic consequences.
    • To evaluate the therapeutic response to biotin administration.

    Main Methods:

    • Analysis of holocarboxylase synthetase (EC 6.3.4.10) mutations.
    • Investigation of biotinidase deficiency (EC 3.5.1.12).
    • Assessment of biotinylation of apocarboxylases.
    • Monitoring of metabolite excretion patterns.

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  • Clinical and biochemical evaluation following biotin treatment.

    • Main Results:

    • Mutations in holocarboxylase synthetase lead to impaired biotinylation due to a high Km for biotin.
    • Biotinidase deficiency results in reduced biotin availability, also causing impaired biotinylation.
    • Both conditions lead to secondary defects in all four biotin-dependent carboxylases.
    • Characteristic metabolites of isolated carboxylase deficiencies are excreted.

    Conclusions:

    • Combined carboxylase deficiency has at least two distinct underlying etiologies.
    • Both holocarboxylase synthetase deficiency and biotinidase deficiency result in widespread carboxylase dysfunction.
    • Prompt diagnosis and treatment with high-dose biotin are effective for both conditions.