Abstract
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
MeSH terms
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Acidosis / etiology
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Alopecia / etiology
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Biotin / therapeutic use
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Biotinidase Deficiency* / complications
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Biotinidase Deficiency* / diagnosis
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Biotinidase Deficiency* / drug therapy
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Dermatitis, Seborrheic / etiology
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Epilepsy / etiology
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Humans
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Infant
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Male