Biotinidase deficiency in Pakistani children; what needs to be known and done

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