Irish Society for Inherited Metabolic Disorders Spring Conference
‘Inborn Metabolic Disorders and the Brain’

Friday, 8th April 2022, Dublin:
VIRTUAL (WEBINAR), 14.00-16.30

REGISTRATION: Click Here 

Sponsor Displays

14.00 – 14.05 Welcome address (Prof. Monavari)

Session 1 (Chair Prof. Monavari)

14.05 – 14.25 Dr L. Healy/M.O’Shea – Glutaric Aciduria Type 1: Long term outcome in 34 Irish patients with events above 6 years of age
14.25 – 14.45 Dr D. O’Reilly – Point of care biochemical testing for inborn errors of metabolism: Experience from a large tertiary neonatal centre
14.45 – 15.05 C. Merrigan/Senior Metabolic Dietitian – The use of a valine-restricted diet in short-chain enoyl-CoA hydratase (ECHS1) deficiency
15.05 – 15.25 Dr J. Brady – OTC deficiency: A laboratory perspective
15.25 – 15.30 Live Questions and Answers

15.30-15.40 Comfort Break & Sponsor Displays

Session 2 (Chair Prof. Ina Knerr)

15.40 – 15.55 Prof. I Knerr – Reflections on 50 years of Newborn Screening for classical Galactosaemia in Ireland: a success story with challenges
15.55 – 16.30 Prof. Phillip L. Pearl, William G. Lennox Chair, Boston Children’s Hospital, Harvard Medical School, Boston, MA – New Paradigms for Metabolic Epilepsies (Keynote Lecture)
16.30 Summary and Close ( Prof. Monavari)
Sponsor Acknowledgement