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Phenotypic variation in biotinidase deficiency.

B Wolf, R E Grier, R J Allen

    The Journal of Pediatrics
    |August 1, 1983
    PubMed
    Summary
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    Biotinidase deficiency, a cause of biotin-responsive late-onset multiple carboxylase deficiency, often presents with neurological or skin symptoms before metabolic issues. Early consideration of this enzyme deficiency is crucial for timely biotin treatment.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Biotinidase deficiency is the primary cause of biotin-responsive late-onset multiple carboxylase deficiency (MCD).
    • Late-onset MCD typically involves metabolic ketoacidosis and organic aciduria alongside neurological and cutaneous symptoms.

    Observation:

    • Reviewed six patients with biotinidase deficiency, comparing their clinical features to literature data.
    • Observed that initial symptoms in biotinidase deficiency often include neurological or cutaneous manifestations.
    • Noted that ketoacidosis and organic aciduria can be delayed or absent in some patients.

    Findings:

    • Biotinidase deficiency initially presents with neurological (e.g., seizures, ataxia) or cutaneous (e.g., rash, alopecia) symptoms.
    • Metabolic ketoacidosis and organic aciduria are secondary manifestations and may not be present early.

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  • The spectrum of symptoms can vary, making early diagnosis challenging.

    • Implications:

    • Biotinidase deficiency should be suspected in infants and children with neurological or cutaneous symptoms, even without overt metabolic disturbances.
    • A therapeutic trial of high-dose biotin is recommended if the diagnosis is suspected.
    • Early diagnosis and treatment can prevent severe complications associated with biotin deficiency.