Biotinidase deficiency.

Indian Pediatr

Department of Pediatrics, Topiwala National Medical College and B.Y.L.Nair Hospital, Mumbai, India.

Published: September 2008

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Article 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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