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Related Experiment Videos

Two forms of biotin-responsive multiple carboxylase deficiency.

L Sweetman

    Journal of Inherited Metabolic Disease
    |January 1, 1981
    PubMed
    Summary

    Biotin-responsive multiple carboxylase deficiencies present in early and late forms. The early form shows increased urinary 3-hydroxyisovalerate and 3-hydroxypropionate with normal biotin levels, suggesting a holocarboxylase synthetase defect.

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    Molecular genetics and metabolism·2012

    Area of Science:

    • Biochemistry
    • Metabolic Disorders
    • Genetics

    Background:

    • Biotin-responsive multiple carboxylase deficiencies (MCD) are inborn errors of metabolism.
    • These deficiencies are typically classified into early-onset and late-onset forms.
    • Understanding the specific defects is crucial for diagnosis and management.

    Purpose of the Study:

    • To differentiate between the early and late forms of biotin-responsive MCD.
    • To investigate the underlying biochemical differences in these patient groups.
    • To propose potential molecular mechanisms for each form.

    Main Methods:

    • Analysis of urinary organic acids, specifically 3-hydroxyisovalerate and 3-hydroxypropionate.
    • Measurement of plasma biotin concentrations.
    • Clinical classification based on age of onset and biochemical profiles.

    Main Results:

    • The early form exhibited significantly higher urinary excretion of 3-hydroxyisovalerate and 3-hydroxypropionate compared to the late form.
    • Patients with the early form presented with normal plasma biotin concentrations.
    • The late form was associated with different urinary metabolite profiles and biotin levels (implied).

    Conclusions:

    • The early form of biotin-responsive MCD is likely caused by a defect in holocarboxylase synthetase.
    • The late form is proposed to involve a defect in intestinal biotin absorption.
    • These findings aid in distinguishing and understanding the pathophysiology of different MCD subtypes.

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