Change of https://www.gov.uk/government/publications/newborn-blood-spot-screening-laboratory-guide-for-imds

Change description : 2025-09-15 09:30:00: Added guidance on hereditary tyrosinaemia type 1 (HT1) [Guidance and regulation]

Showing diff : 2024-11-06 14:47:25.703726682 +00:00..2025-09-15 09:41:58.537075848 +00:00

Guidance

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.

From:
NHS England
Published
14 July 2015
Last updated
615 NovemberSeptember 20242025 — See all updates

Documents

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

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Details

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)
  • hereditary tyrosinaemia type 1 (HT1)

Updates to this page

Published 14 July 2015
Last updated 615 NovemberSeptember 2024 + show2025 href="#full-history">+ show all updates

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Update history

2026-01-16 11:22
Added a note to section 15.3.1 of the handbook on the potential for false negative results in pregnant patients receiving nitisinone.

2025-11-05 13:14
Minor updates to IVA pathway

2025-09-15 09:30
Added guidance on hereditary tyrosinaemia type 1 (HT1)

2024-11-06 14:47
Collated information and provided links to diagnostic information