Biotinidase deficiency.
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.
Dahiphale
Ramdas
R
Department of Pediatrics, Topiwala National Medical College and B.Y.L.Nair Hospital, Mumbai, India. dr_ramdas@yahoo.com
Jain
Shreepal
S
Agrawal
Mukesh
M
D000138:Acidosis / Q000209:etiology; D000505:Alopecia / Q000209:etiology; D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D012628:Dermatitis, Seborrheic / Q000209:etiology; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male
D001710:Biotin