- 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
This file may not be suitable for users of assistive technology. Request an accessible format.
If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email email@example.com. Please tell us what format you need. It will help us if you say what assistive technology you use.
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.