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)

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

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

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

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

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

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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. Updated versions of letter templates added.
  2. First published.