The story of Sheila Jones and unlocking the treatment for phenylketonuria
Find out about the first child in the world to receive dietary treatment for phenylketonuria (PKU).
Amy Headley
Amy is project lead for the NHS Newborn Blood Spot Screening Programme.
New inherited metabolic disease (IMD) information leaflets have been published on GOV.UK
PHE has public information leaflets for all NBS conditions, including the IMDs, to support parents throughout screening and diagnosis.
Updated CHT screening resources
The following CHT resources have now been updated and published: CHT laboratory handbook, CHT suspected and further information for families, and CHT initial clinical referral guidelines.
Inherited metabolic disease (IMD) screening leaflets made more accessible
All inherited metabolic disease leaflets for newborn blood spot screening have been converted into HTML format.