Paediatric Inherited Metabolic Medicine

A metabolic paediatrician deals with the diagnosis, treatment and follow-up care of children with inherited metabolic diseases.

What makes a Metabolic Paediatrician?

A Metabolic Paediatrician is a doctor 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.

These doctors have detailed knowledge of normal 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 disease, including through newborn screening.

They work closely with laboratory scientists, metabolic dietitians and specialist pharmacists and nursing teams.

These paediatricians are research-active, and keep up to date with the rapid and exciting developments in therapeutics for the metabolic disorders. They are advocates for their patients through active engagement with developing and commissioning high quality services and evolving therapies.

Curriculum documents

IMM (inherited metabolic medicine) curriculum (PDF, 2.22MB, 169 pages)

IMM guidance checklist (MS Doc, 99 KB, 6 pages)

IMM log book (PDF, 494KB, 43 pages)

CSAC membership

Role                             Name                                  Email Address

Chair

Dr Saikat Santra

saikat.santra@bch.nhs.uk

Training Advisor

Prof Shamima Rahman   shamima.rahman@ucl.ac.uk 

Training Advisor

Dr Maureen Cleary  maureen.cleary@gosh.nhs.uk 

Assessment Advisor

Dr Elisabeth Jameson elisabeth.jameson@cmft.nhs.uk

Quality Advisor

Dr Helen Mundy helen.mundy@gstt.nhs.uk

Trainee Representative

Dr Arunabha Ghosh   Arunabha.Ghosh@cmft.nhs.uk 

Related links

British Inherited Metabolic Disease Group

Gauchers Association

Society for the Study of Inborn Errors of Metabolism

Children Living With Inherited Metabolic Diseases