Guidance

Inherited metabolic diseases: confirmed diagnosis template GP letter

Letter templates to GPs to confirm a child's diagnosis for an inherited metabolic disease.

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

Documents

MS Word Document, 146 KB

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MS Word Document, 145 KB

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MS Word Document, 147 KB

This file may not be suitable for users of assistive technology.

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 england.contactus@nhs.net. Please tell us what format you need. It will help us if you say what assistive technology you use.

MS Word Document, 145 KB

This file may not be suitable for users of assistive technology.

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 england.contactus@nhs.net. Please tell us what format you need. It will help us if you say what assistive technology you use.

MS Word Document, 146 KB

This file may not be suitable for users of assistive technology.

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 england.contactus@nhs.net. Please tell us what format you need. It will help us if you say what assistive technology you use.

MS Word Document, 144 KB

This file may not be suitable for users of assistive technology.

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 england.contactus@nhs.net. Please tell us what format you need. It will help us if you say what assistive technology you use.

MS Word Document, 143 KB

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MS Word Document, 32.3 KB

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Details

These documents are for inherited metabolic disease specialist teams to confirm a child鈥檚 diagnosis for an inherited metabolic disease:

  • maple syrup urine disease
  • isovaleric acidaemia
  • isolvaleric acidaemia biochemically mild variant
  • glutaric aciduria type 1
  • homocystinuria (pyridoxine unresponsive)
  • hereditary tyrosinaemia type 1 (HT1)

Updates to this page

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

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

  2. Updated versions of letter templates added.

  3. First published.

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