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.

Read about this clinical area and download the syllabi for both sub-specialty and for generic specialty training.

Introduction to this sub-specialty

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.

Training in this sub-specialty

In summer 2023, we launched RCPCH Progress+, our updated, two-level paediatric training programme in the UK.

Paediatricians start in core training, and then move on to specialty training - when some choose to apply to train in a paediatric sub-specialty, such as paediatric inherited metabolic medicine.

The Progress+ curriculum provides a framework for paediatric training, and outlines the Learning Outcomes and Key Capabilities required at each stage before attaining the Certificate of Completion of Training (CCT).

The RCPCH Progress+ syllabi support the curriculum with further guidance on how the Learning Outcomes can be achieved and demonstrated, with sub-specialty Learning Outcomes. You can download the Progress+ syllabi for this sub-specialty and for specialty training (generic) below. 

Trainees due to CCT by September 2024 continue to use the Progress curriculum and syllabi; you can also download the the Progress syllabi below.