Biotinidase deficiency.

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Date
2008-09-30
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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.
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Dahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatrics. 2008 Sep; 45(9): 777-9