Welcome to Practicing Paediatrics, concise introductions to specialist conditions treated at GOSH. In today's episode we speak to Dr James Davison, consultant in metabolic medicine, about Pompe Disease. We talk about pathophysiology, inheritance and presentation, investigation, diagnosis, management and current research. 

Peer review by Dr Andrew Broomfield

*

Did you know that GOSH runs Mock Exam sessions for the MRCPCH? Find out more here: https://www.gosh.nhs.uk/working-here/gosh-learning-academy/education-and-training/postgraduate-medical-education/mrcpch-examinations/mock-examinations/

*

Resources mentioned:

Association for Glycogen Storage Diseases UK: https://agsd.org.uk/

*

We would love to get your feedback on our podcasts, or your suggestions for future topics. Please help us by filling out our feedback survey at: https://www.smartsurvey.co.uk/s/GOSHpodcasts/

This podcast is brought to you the GOSH Learning Academy. To find more about our work you can visit our website here: https://www.gosh.nhs.uk/working-here/gosh-learning-academy/. 

Twitter: @GOSHLearnAcad
Instagram: @GOSHLearnAcad
Sound effects obtained from https://www.zapsplat.com