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. Find out more about this sub-specialty and its curriculum.

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

As of 1 August 2018, sub-specialty trainees use the RCPCH Progress Level 3 Generic syllabus alongside the RCPCH Progress Paediatric Inherited Metabolic Medicine Syllabus, which are available to download below.

Sub-specialty learning outcomes

In addition to the generic learning outcomes for level 3, paediatric inherited metabolic medicine trainees must fulfil the below requirements.

  • 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.

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