Victorian newborns will be the first in Australia to be screened for the rare and serious genetic disorder biotinidase deficiency, as part of the Newborn Bloodspot Screening Program.
Commonly referred to as the heel prick test, the screening program will now test for 34 conditions – helping parents get their children early treatment and support for rare health conditions, so they can live long, healthy lives.
Biotinidase deficiency is an inherited metabolic disorder where the body cannot recycle biotin, leading to a deficiency that if left untreated, can cause neurological issues like seizures, developmental delays, and other issues such as hair loss, hearing and vision problems.
