Adding a screen for treatable mucopolysaccharide (MPS) and other lysosomal storage diseases (LSDs) to the newborn heel prick test would help Australian families get earlier diagnosis and treatment for affected babies.
Approximately one live birth in 7,700 results in a baby with an LSD. With 305,377 babies born in Australia in 2015 i, that means around 40 newborns would have likely tested positive to a heel prick test for an LSD.
There are over 50 serious, progressive LSDs. ii
The most-frequently encountered LSDs are MPS and Pompe. Some babies show signs of disease at birth, but others may not be correctly diagnosed for years, by which time they may already have irreversible damage.
Early diagnosis can save lives
With early diagnosis comes the chance for early treatment and less disability. Not all LSDs are treatable, but for those that are, early diagnosis and treatment can provide a much-improved quality of life.
Australian NBS national policy framework
National Framework for new born screening has recently been developed by a group of experts including lab experts, clinicians and ethicists. HGSA develops a list of candidate conditions for NBS under this framework MPS I & II are recommended in category 1. Infantile Pompe is listed in category 2 along with Lysosomal Storage Disorders in general.