E06. Metabolic disorders


This Clinical Reference Group (CRG) covers specialist inherited metabolic disorders (IMDs). These are a diverse range of conditions, some of which are extremely rare.

Although varying widely in their presentation and management according to which body systems are affected, IMDs are caused by a disruption in normal biochemical processes. Conditions are life-long and most are due to single enzyme deficiencies that lead to severe disturbance of metabolic processes in the body, resulting in either a deficiency of products essential for health or an accumulation of unwanted or toxic products. This can cause disease or damage in many organ systems, leading to severe learning or physical disability and death at an early age.


  • Chair: Dr Robin Lachmann PhD FRCP, Consultant in Metabolic Medicine, UCLH
  • Joan Ward, Lead Commissioner
  • Helena Kemp, Clinical Member
  • Melanie McSweeney, Clinical Member
  • Dr Mike Champion, Clinical Member
  • Louise Simmons, Clinical Member
  • Dr Chong Yew Tan, Clinical Member
  • Dr Bernd Schwahn, Clinical Member
  • Dr Germaine Pierre, Clinical Member
  • Nevila Kallfa, PHE Lead
  • Antonio Ochoa-Ferraro, Pharmacy Lead
  • Toni Mathieson, Patient and Public Voice representative
  • Jess Doyle, Patient and Public Voice representative
  • Elaine Murphy, Affiliate Member, British Inherited Metabolic Disease Group
  • Rachel Skeath, Affiliate Member, BIMDG Dietician Group


A key part of the CRG’s work is the delivery of the ‘products’ of commissioning. These are the tools used by the 10 Hub Commissioning Teams to contract services on an annual basis.

Service specifications

Service specifications are important in clearly defining the standards of care expected from organisations funded by NHS England to provide specialised care. The specifications have been developed by specialised clinicians, commissioners, expert patients and public health representatives to describe both core and developmental service standards. Core standards are those that all funded providers should be able to demonstrate, with developmental standards being those which may require further changes in practice over time to provide excellence in the field.

The following service specifications fall within the scope of this CRG:


A commissioning policy is a document that defines access to a service for a particular group of patients. A NICE Technology Appraisal Guideline on the same topic will replace, or be incorporated into, a commissioning policy as appropriate. These are important documents that are developed to ensure consistency in access to treatments nationwide.

The following policies fall within the scope of this CRG:


Not routinely commissioned:

Urgent clinical commissioning policy statements: