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.

Documents

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

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

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

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

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

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Positive newborn screen for MCADD: template GP letter

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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

See also Inherited metabolic diseases: presumptive positive template letter.

Published 1 January 2015
Last updated 21 August 2017 + show all updates
  1. Added updated versions of letter templates.
  2. First published.