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.

• From: Public Health England
• Published: 1 January 2015
• Last updated: 21 August 2017 — See all updates

Documents

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

MS Word Document, 145 KB

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

MS Word Document, 145 KB

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

MS Word Document, 146 KB

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

MS Word Document, 145 KB

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

MS Word Document, 146 KB

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

MS Word Document, 145 KB

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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)

Published 1 January 2015
Last updated 21 August 2017 + show all updates

1. 21 August 2017

   Updated versions of letter templates added.

2. 1 January 2015

   First published.