Guidance
Newborn blood spot screening: laboratory guide for IMDs
This publication covers all inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.
Documents
Details
The document covers screening and diagnostic protocols and initial clinical referral guidelines for the inherited metabolic diseases:
- phenylketonuria (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA1)
- homocystinuria (pyridoxine unresponsive) (HCU)
- hereditary tyrosinaemia type 1 (HT1)
Updates to this page
Published 14 July 2015
Last updated 15 September 2025
show all updates
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Added guidance on hereditary tyrosinaemia type 1 (HT1)
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Collated information and provided links to diagnostic information
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Updated version of guidance document.
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First published.