Paediatric inherited metabolic medicine - sub-specialty

Metabolic paediatricians care for children and families who have inherited disorders that affect the body’s normal biochemical reactions. Access the current syllabus for training in this clinical area, as well as the revised syllabus coming in August/September 2021.

What makes a metabolic paediatrician?

A metabolic paediatrician is a clinician who cares for children and families who have inherited disorders that affect the body’s normal biochemical reactions. There are many rare metabolic disorders that can affect the function of any organ system and can present at any age.

They have detailed knowledge of normal human biochemistry and the impact of metabolic diseases, and use this knowledge in the diagnostic process (including identifying novel disorders) and in planning management strategies. They strive to improve the early recognition and diagnosis of metabolic diseases, including through newborn screening.

Metabolic paediatricians work closely with laboratory scientists, metabolic dietitians, pharmacist specialists and nursing teams. They are research-active and keep up to date with the rapid and innovative developments in therapeutics for metabolic disorders. They are advocates for their patients, actively engaging in developing and commissioning high quality services and evolving therapies.

RCPCH Progress curriculum and syllabi for level 3 training

Since August 2018, trainees in this sub-specialty use the RCPCH Progress level 3 generic syllabus alongside the RCPCH Progress paediatric inherited metabolic medicine sub-specialty syllabus. Download both documents below

In addition to the generic learning outcomes for level 3, trainees must fulfil the following sub-specialty learning outcomes:

  • Recognises, assesses and manages the full range of acute paediatric inherited metabolic emergencies.
  • Demonstrates sound understanding of the full range of metabolic conditions and applies this knowledge to newly referred patients.
  • Counsels families of a patient with the diagnosis of an inherited metabolic disorder (IMD) detected through the newborn screening programme.
  • Explains the inheritance of IMD to families and applies this within a cultural context.
  • Liaises effectively with hospital and community specialist teams for managing paediatric inherited metabolic conditions, particularly with specialists such as dietitians, pharmacists, nurses and laboratory scientists.
  • Effectively works with paediatricians in district general hospitals and specialist centres to coordinate patient care, and maintains consistent quality in the context of a paediatric inherited metabolic medicine service.
  • Contributes to international collaborations and research.

Revised syllabus coming in August/September 2021

We spoke with clinicians working in this sub-specialty, and agreed some enhancements to the sub-specialty syllabus. The revised version is approved by the General Medical Council (GMC) for use as of August/September 2021. Download the revised syllabus below

A summary of the changes:

  • Learning Outcome (LO) 7 has been amended, with the word ‘international’ now being replaced with ‘multicentre’. Key Capabilities (KCs) have also been amended and aligned with LOs.
  • The original KC2 has been moved above KO1 and the original KC1 (now KC2) has been updated where  ‘Phenylketonuria’ and ‘MCAD’ have been removed and added as a separate KC; now KC3, (which now replaces the original KC3). 
  • The original KC4 has been moved and is now listed as the new KC6. 
  • The Assessment Grid has been updated to reflect changes to the KCs. 

You can find out more about the updates to this and other sub-specialty syllabi. If you have any questions contact us on