Abstract

Biotinidase deficiency (BD) is an autosomal recessive inherited disorder of biotin metabolism. It can be treated without a sequele by early diagnosis and early onset of biotin therapy. A three-months old male, admitted in our clinic with early onset seizures, respiratory distress, hypotonia, lethargy and metabolic ketoacidosis resistant to bicarbonate therapy is presented. Serum biotinidase activity confirmed profound deficiency (0.98 nmol/min/ml). With the onset of oral biotin therapy of 10 mg/day, the patient showed evident clinical improvement. The case is presented to show the importance of early diagnosis and treatment of BD and to underline that the BD should be included in the neonatal sereening program in our country.