and the Pediatrics Commons Recommended Citation

Biotinidase deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, treatable metabolic disorder. It occurs due to the deficiency of an enzyme biotinidase, which is involved in biotin cycle. As a result of BD the vitamin biotin is not recycled in biotin cycle. The deficiency of biotinidase can be partial or profound based on the level of activity of biotinidase enzyme; it is considered as partial BD when biotinidase activity is 10-30 % of mean normal serum enzyme activity and profound BD when it is less than 10 % mean serum enzyme activity. Untreated individuals with profound BD usually manifest neurological and cutaneous features mostly between second and fifth month of life.1 However, some patients can present in late adolescent or even in adult life. Neurological manifestations include hypotonia, developmental delay