Guidance

Inherited metabolic diseases: suspected condition template GP letter

Letter templates to GPs to confirm a child's newborn screening result for a suspected inherited metabolic disease.

From:
NHS England
Published
1 January 2015
Last updated
15 September 2025 — See all updates

Documents

Positive newborn screen for maple syrup urine disease (MSUD): template GP letter

MS Word Document, 145 KB

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Positive newborn screen for isovaleric acidaemia (IVA): template GP letter

MS Word Document, 145 KB

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Positive newborn screen for glutaric aciduria type 1 (GA1): template GP letter

MS Word Document, 149 KB

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Positive newborn screen for homocystinuria (HCU): template GP letter

MS Word Document, 143 KB

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Positive newborn screen for phenylketonuria (PKU): template GP letter

MS Word Document, 145 KB

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Positive newborn screen for MCADD: template GP letter

MS Word Document, 145 KB

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Positive newborn screen for hereditary tyrosinaemia type 1 (HT1): template GP letter

MS Word Document, 35.4 KB

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Details

These documents are for inherited metabolic disease specialist or designated teams to confirm a suspected positive screen for:

  • maple syrup urine disease
  • isovaleric acidaemia
  • glutaric aciduria type 1
  • homocystinuria (pyridoxine unresponsive)
  • phenylketonuria
  • hereditary tyrosinaemia type 1 (HT1)

See also Inherited metabolic diseases: presumptive positive template letter.

Updates to this page

Published 1 January 2015
Last updated 15 September 2025 show all updates

  1. Added letter template for hereditary tyrosinaemia type 1 (HT1)

  2. Added updated versions of letter templates.

  3. First published.

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