Please note that updated screening, diagnostic, clinical guidelines are available on the Newborn Blood Spot Screening Programme website at
Updated dietary guidelines will be available on
Each local centre will be responsible for providing parents with details of the emergency regimen for when the child is unwell. These are locally determined but are based on the BIMDG guidelines. These guidelines can be found at: www.bimdg.org.uk
Please note: The information provided on the treatment of each of these conditions is provided as a guide only.The conditions are known to affect different people in different ways and your doctor will match the treatment to the individual needs of your child. As such the treatment provided may vary from those published on the website.