- Public Health England
- Part of:
- NHS population screening standards and Newborn blood spot screening programme: supporting publications
- 14 July 2015
- Last updated:
- 8 September 2017, see all updates
This publication covers all 6 inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.
Ref: PHE publications gateway number 2017291 PDF, 1010KB, 140 pages
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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
Updated: 8 September 2017
- Updated version of guidance document.
- First published.