Application Detail
Description of Medical Service
It is proposed that a screening test for mucopolysaccharidosis Type II (MPS II) 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 II, it is proposed that cascade testing is offered to biological mothers and older male siblings.Description of Medical Condition
MPS II, also known as Hunter syndrome, is a type of lysosomal storage disease. It is a rare, inherited genetic condition that mainly occurs in boys (X-linked), where variations occur in the IDS gene. In MPS II, an enzyme called iduronate 2-sulfatase 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 decreased activity of the iduronate 2-sulfatase enzyme results toxic build-up of dermatan sulphate and heparan sulphate in multiple organs of the body. This leads to development of symptoms that includes an enlarged liver and spleen, umbilical or inguinal hernia, hearing loss, narrowing of the spinal canal compressing the spinal cord, and heart valve abnormalities. Severity of symptoms and age of onset vary between individuals. The most severe form of disease is characterised by earlier onset of symptoms, more rapid disease progression and neuronopathic involvement, leading to symptoms of significant neurological impairment, including cognitive disability and behavioural problems.Reason for Application
Inclusion in NBSMedical Service Type
Investigative technologyPrevious Application Number/s
Not ApplicableAssociated Documentation
Application Summary and PICO Set
Application Summary (PDF 409 KB)Application Summary (Word 34 KB)
PICO Set 1 (PDF 906 KB)
PICO Set 1 (Word 285 KB)
PICO Set 2 (PDF 1201 KB)
PICO Set 2 (Word 333 KB)
Consultation Survey
Consultation Survey (PDF 653 KB)Consultation Survey (Word 33 KB)
PASC Consultation
PASC consultation closes 15 March 2024
MSAC Consultation
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