Guidance

Inherited metabolic diseases: confirmed diagnosis template GP letter

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

Documents

Confirmed diagnosis of glutaric aciduria type 1 (GA1): template GP letter

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Confirmed diagnosis of homocystinuria (HCU): template GP letter

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Confirmed diagnosis of isovaleric acidaemia (IVA): template GP letter

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Confirmed diagnosis of isovaleric acidaemia (IVA) biochemically mild variant (932C>T): template GP letter

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Confirmed diagnosis of Medium-Chain Acyl-CoA Deficiency (MCADD): template GP letter

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Confirmed diagnosis of maple syrup urine disease (MSUD): template GP letter

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Confirmed diagnosis of phenylketonuria (PKU): template GP letter

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Details

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

  • maple syrup urine disease
  • isovaleric acidaemia
  • isolvaleric acidaemia biochemically mild variant
  • 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.