Newborn Screening – Newborn blood spot test
In the UK every baby is offered newborn blood spot screening, also known as the heel prick test, ideally when they are five days old.
The blood spot tests screen for nine rare but serious conditions, six of these disorders are inherited metabolic diseases, three of which are "Reye-like" viz
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
Further information about these inherited metabolic diseases can be obtained from the "NHS Choices Newborn Screening" website.
Of particular interest is the section "Read more about the newborn blood test" which includes information for both the public and professionals about the three Reye-like inherited metabolic diseases referred to above.
Another website which provides information about Expanded Screening, also includes information about MSUD and IVA disorders and can be found at "Expanded Newborn Screening – NHS UK – A Collaborative"
Review April 2017