1775 – Newborn bloodspot screening for mucopolysaccharidosis, Type 1 (MPS I)

Inclusion in NBS.

It is proposed that a screening test for mucopolysaccharidosis Type 1 (MPS I) be added to existing newborn bloodspot screening programs in Australia. Screening will be of newborn babies within 48-72 hours of birth. The initial test consists of collecting blood samples from all newborns via a heel-prick onto filter paper cards, and sending these to a laboratory for testing. When a newborn is diagnosed with MPS I, it is proposed that cascade testing is offered to close relatives.

Type: Investigative technology

MPS I, which exists on a spectrum, including the severe form known as Hurler Syndrome, is a type of lysosomal storage disease. It is a rare, inherited genetic condition where variations occur in the IDUA gene. In MPS I, an enzyme called lysosomal alpha L-iduronidase doesn’t work properly. This enzyme is responsible for breaking down complex sugar molecules called glycosaminoglycans (GAGs) that are stored in small compartments of cells called lysosomes. This then causes GAGs to build up in the lysosomes, damaging the cells and affecting many systems in the body. It is a progressive multisystem disorder with varying severity of symptoms, which are usually consistent with varying levels of disease severity. Most known cases fall within the severe form with signs/symptoms starting in the first year of life.

• PASC consultation: Closed 15 March 2024
• MSAC consultation: Closed Friday 11 October 2024

• PASC meeting: 18–19 April 2024
• ESC meeting: 10–11 October 2024
• MSAC meeting: 28–29 November 2024