Inherited metabolic disease referrals

Inherited metabolic diseases are genetic disorders that result in problems with the metabolism. A defective gene causes an enzyme deficiency which means that certain essential substances found in food can’t be converted properly by the body.

Embrace transfers patients with inherited metabolic diseases to the specialist centres in Sheffield and Manchester. We recommend that referring teams refer to the British Inherited Metabolic Diseases Group emergency guidelines.

We are able to conference call specialists in inherited metabolic diseases for further advice as required.