Inherited metabolic diseases (IMD)


Making a referral

We accept referrals from GPs and hospital doctors for non-urgent investigation and management of IMD in adults (over 16).

If your patient is under 16, please refer them to our IMD service at Evelina London.

GPs must refer using the NHS e-Referral Service (e-RS). We do not accept GP referrals by email.

Our consultants check referrals and decide which of our clinics is most appropriate.

We don't accept referrals for patients with:

  • bone and calcium disorders
  • lipid disorders, including familial hypercholesterolemia (FH)
  • obesity
  • diabetes

They should be referred to our endocrinology service or diabetes service.

If your patient has a lysosomal storage disorder (LSD) and is being treated with enzyme replacement therapy, they should be referred directly to their local highly specialised service (HSS) LSD service.


If your patient has a known IMD and is pregnant, please let us know within 24 hours or on the new working day. This includes patients already being treated by us.

Last updated: June 2022

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