The UK newborn screening programme currently includes 6 Inherited Metabolic Disorders:
medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
Metabolic Support UK has recently taken on the role of Chair of the UK Patient Advocates for Newborn Screening Group (PANS), which is a working group of a number of patient organisations – supported by scientists, clinicians and other health professionals – all with an interest in the extension of the UK newborn screening programme for all appropriate inherited disorders.
The group works to:
- Raise awareness of the importance of newborn screening in detecting rare conditions at the earliest opportunity.
- Identify and agree on diseases that can meet the criteria for submission to the UK National Screening Committee.
- Advise and supports all patient organisations in submitting their proposals.
- Study newborn screening developments in other countries, developments in research and new treatments.
- Identify key challenges and issues which are preventing new disorders being accepted onto the programme and make recommendations to the relevant Government departments.
Newborn screening is a key part in the implementation of the UK Strategy for Rare Diseases.