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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.

Outpatient clinics

Our outpatient clinic service is primarily based in the outpatient departments at both University Hospital of Wales and University Hospital Llandough, Cardiff. Outpatient clinic appointments may also be offered to you at Wrexham Maelor Hospital or Denbigh Community Hospital.

Alternatively you may also be offered a telephone appointment or an online appointment via a video call. Video calling is as convenient as a phone call with the added value of face to face communication.


Who will I see?

There is a team of specialist consultants responsible for the ongoing care of Adults with Inherited Metabolic Disorders in Wales.

  • Dr Duncan Cole
    Clinical Lead, All Wales Adult Inherited Metabolic Disease Service, Clinical Reader and Honorary Consultant in Metabolic Medicine

  • Dr Danja Schulenburg-Brand
    Clinical Lead, National Acute Porphyria Service (Cardiff), Consultant in Chemical Pathology and Metabolic Medicine

  • Dr Patrick Wainwright
    Consultant in Chemical Pathology and Metabolic Medicine

  • Dr Azza Osman
    Clinical Fellow in Metabolic Medicine

Who else will I see?

The All Wales Adult Inherited Metabolic Disease Service also includes metabolic dietitians, clinical nurse specialists and a specialist physiotherapist.

  • Sarah Bailey
    Clinical Lead Dietitian

  • Dilan Thompson
    Metabolic Dietitian

  • Rhiannon Armstrong
    Clinical Nurse Specialist for Inherited Metabolic Disorders

  • Omabe Obasi
    Clinical Nurse Specialist for Acute Porphyria and Lysosomal Storage Disorders

  • Hayley Davis
    Specialist Neuromuscular Physiotherapist

Other members of the team

  • Jemma Hassell-Wilkes
    Data Coordinator and Administrative Assistant

  • Marie Davies
    Medical Secretary to Dr Duncan Cole

  • Nicola Glazzard
    Medical Secretary to Dr Patrick Wainwright

  • Caroline Taylor
    Medical Secretary to Dr Danja Schulenburg-Brand

Contact us

Should you wish to contact us with non-urgent enquires you can do so between the hours of 8:00am and 4:00pm weekdays.

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:

  1. start your oral emergency regimen immediately.
  2. do not delay going to hospital whilst trying to contact us.
  3. take your emergency guideline with you, which contains information on how admitting teams can contact us.

 


For healthcare professionals

A detailed guideline for immediate emergency management can be found on the British Inherited Metabolic Disease Group (BIMDG).

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.

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