All Wales Adult Inherited Metabolic Disease Service
We are a team of dedicated healthcare professionals who look after adults with inherited disorders of metabolism.
Our outpatient clinics include:
- Inherited Metabolic Disorders
- Lysosomal Storage Disorders
- Acute Porphyria
We accept referrals from other healthcare professionals and regularly welcome patients moving from the paediatric metabolic clinics to our service; a process known as transition.
Read more about Inherited Metabolic Diseases.
Contact us
Our team are available between the hours of 9:00am and 4:00pm weekdays to answer non-urgent enquiries. We welcome phone calls in Welsh and in English.
Inherited Metabolic Disorders and Lysosomal Storage Disorders patient enquires
Dietetic patient enquires
Porphyria patient enquires
If you have an acute metabolic condition and become acutely unwell at any time of the day or night:
- start your oral emergency regimen immediately
- do not delay going to hospital whilst trying to contact us
- take your emergency guideline with you, which contains information on how admitting teams can contact us
- take all of your regular medication with you
For healthcare professionals
Detailed guidelines for immediate emergency management of acute metabolic conditions can be found on the British Inherited Metabolic Disease Group (BIMDG) (opens in new tab) website.
In an emergency please try to contact a Metabolic Consultant. Please note that the Metabolic Consultants wish to encourage medical contact.
Please note: There is no formal out-of-hours medical on call service for Inherited Metabolic Disease, but consultants may be contacted via University Hospital of Wales switchboard (029 218 47747) if urgent advice is needed, although their availability cannot be guaranteed.