E06. Metabolic disorders


This Lead and Inform 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, National Specialty Adviser (NSA) for Metabolic Disorders
Joan Ward, Lead Commissioner

Clinical Members are being appointed.

Nevila Kallfa, PHE Lead
Antonio Ochoa-Ferraro, Pharmacy Lead
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:

Get involved

If you are interested in the work of the specialised paediatric allergy, immunology and infectious disease CRG or its NPOC, you can register as a stakeholder.

For details on our latest consultations please visit the NHS England consultation hub.

Get in contact

For any questions or queries relating to the work of the specialised paediatric allergy, immunology and infectious disease CRG or its NPOC, please contact: england.npoc-womenandchildren@nhs.net