The state government announced that Victorian newborns will be the first in Australia to be screened for an additional rare but serious health condition.
Announced on Monday 13 October, Victoria will be the first jurisdiction to test 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 – aimed at 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.
The condition can be treated, so early diagnosis through the newborn bloodspot screening program will help prevent serious health consequences.
Health Minister Mary-Anne Thomas said every Victorian baby deserves the best start in life.
“Newborn babies will now be tested for 34 rare and serious conditions at no cost – giving Victorian parents peace of mind and ensuring babies get the care and treatment they need sooner,“ Ms Thomas said.
The addition will also enable the Murdoch Children’s Research Institute to obtain population-based estimates of this rare condition at a local level.
Internationally, it is reported that approximately one in 60,000 babies will be diagnosed with the deficiency in countries that screen for the condition.
The screening is offered to parents of all newborns within their first 72 hours of life, at no cost.
