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Inherited metabolic disorders

Published on 17 February 2022

All territorial NHS boards pool funds to meet the costs for several medicines for people with inherited metabolic disorders (IMD) resident in Scotland.

List of drugs included in the scheme

We fund all of the IMD medicines listed below if they're prescribed by the Scottish IMD Service. New medicines are added automatically to the scheme if they're approved through the Scottish Medicines Consortium Ultra Orphan Pathway.

Drugs for the treatment of Fabry's disease:

  • Agalsidase alpha (Replagal)
  • Agalsidase beta (Fabrase/Fabrazyme)
  • Migalastat (Galafold®)

Drugs for the treatment of Type 1 Gaucher's disease:

  • Imiglucerase (Cerezyme)
  • Miglustat (Zavesca/Vevesca)
  • Velaglucerase (Vpriv)
  • Eliglustat (Cerdelga ®)

Drugs for the treatment of other rare IMDs:

  • Carbaglu (N-carbamoyl-L-glutamic acid) for the treatment of hyperammonaemia due to Nacetylglutamate synthase deficiency (restricted use)
  • Alglucosidase alfa (Myozyme) for the treatment of Pompe disease (acid maltase deficiency)
  • Laronidase (Aldurazyme) for the treatment of MPS 1, Hurler-Scheie or Scheie syndrome
  • Idursulfase (Elaprase) for the treatment of MPS II (Hunter's syndrome)
  • Volanesorsen sodium (Waylivra) for those with genetically confirmed familial chylomicronaemia syndrome (FCS) who are at high risk for pancreatitis and have had an inadequate response to diet and triglyceride lowering therapy. This was approved via SMC ultra-orphan pathway in November 2020.

NSD contact

nss.specialistservices@nhs.scot

Please note that NSD does not directly provide medical services and we won't be able to answer queries about your own care or appointments. If you would like to discuss any aspects of your care, please contact your primary healthcare provider. This might be your GP, consultant, nurse or other healthcare professional. They will be best placed to give you the right advice.