Guidance

Inherited metabolic diseases: presumptive positive template letter

Screening laboratories can use these template letters to contact clinicians about a presumed positive newborn screening result for inherited metabolic diseases.

Documents

MSUD: notification of presumptive positive for MSUD specialist team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

IVA: notification of presumptive positive for IVA specialist team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

GA1: notification of presumptive positive for GA1 specialist team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

HCU: notification of presumptive positive for HCU specialist team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

MCADD: notification of presumptive positive for designated or specialist MCADD team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

PKU: notification of presumptive positive for designated or specialist PKU team (by screening laboratory to clinician)

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 publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Details

Use these letter templates to inform specialist or designated inherited metabolic disease (IMD) teams and clinicians about a child with a newborn blood spot screening result which is presumed positive for an IMD:

  • phenylketonuria
  • medium-chain acyl-CoA dehydrogenase deficiency
  • maple syrup urine disease
  • isovaleric acidaemia
  • glutaric aciduria type 1
  • homocystinuria (pyridoxine unresponsive)

Updates to this page

Published 1 January 2015
Last updated 21 August 2017 + show all updates
  1. Updated versions of letter templates added.

  2. First published.

Sign up for emails or print this page