Biotinidase deficiency

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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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APA

Dahiphale, R., Jain, S., & Agrawal, M. (2008). Biotinidase deficiency. Indian Pediatrics, 45(9), 777–779. https://doi.org/10.1212/wnl.36.8.1107

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