Newborn blood spot screening: laboratory guide for IMDs

This publication covers all 6 inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.


A laboratory guide to newborn blood spot screening for inherited metabolic diseases

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The document covers screening and diagnostic protocols and initial clinical referral guidelines for the 6 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)
Published 14 July 2015
Last updated 8 September 2017 + show all updates
  1. Updated version of guidance document.

  2. First published.