WHAT IS PARTIAL BIOTINIDASE DEFICIENCY?

Biotinidase deficiency can appear in a milder form called partial biotinidase deficiency. In partial biotinidase deficiency, the activity of biotinidase is about 10-30% of normal compared to less than 10% in the profound or more serious form of this condition. Thus far, all of the children who have been classified as having partial biotinidase deficiency have been identified through newborn screening programs. Untreated children with partial deficiency are usually healthy, although symptoms have occurred in some children when they are stressed from an infection or poor diet. Currently, most children with this partial biotinidase deficiency are being treated with prescribed doses of biotin, usually slightly less (2 to 5 mg/day) than that used to treat profound deficiency, whereas others remain untreated and are carefully watched for the development of symptoms. The full clinical significance of partial deficiency is still not known with certainty.

BACK | Biotinidase Deficiency