Conference webinar - British Inherited Metabolic Disease Group 

Chaired by Dr Roshni Vara, this free, live online event will feature guest lectures and abstract presentations, with opportunities for delegates to ask questions. It's an online version of the paediatric sub-specialty symposium due to take place at the RCPCH Conference and exhibition in April 2020.
RCPCH Conference Online 2020
Date: -
Time: -
Spaces available

Programme

Accompanying posters for this session are available to view on the RCPCH ePoster platform until 4 December 2020.
 

Chair: Dr Roshni Vara, Consultant in Paediatric Inherited Metabolic Disease, Evelina London Children’s Hospital   

14:00-14:45 Seizures and inherited metabolic disease, Dr Emma Footitt, Consultant in Paediatric Inherited Metabolic Disease, Great Ormond Street Hospital  

14:45-14:55 “Simple bronchiolitis” – Are you sure?, ID 431, Dr R S Tattersall 

14:55- 15:05 Developmental delay in a young infant with non-classical combined malonic and methylmalonic aciduria (CMAMMA) caused by homozygous mutations in ACSF3 gene, ID 386, Dr MBK Dayasiri 

15:05 – 15:15 A rare case of Lesch-Nyhan syndrome, ID 121, Dr E Theranirajan

15:15 – 15:25 Clinical characteristics, laboratory findings and management data in a single-center cohort of patients with heterozygous familial hypercholesterolemia, ID 747, Dr N Elkhateeb 

15:25 – 15:35 Delayed Diagnosis of A Gluconeogenic Disorder In Children With Hypoglycaemia And/Or Lactic Acidosis: Lessons Learnt, ID 569, Dr S Sreekantam 

15:35 – 15:45 Primary Carnitine Deficiency: Variable In Its Presentation, Treatable In Its Course and the Importance of Family Screening. A Case Series, ID 646, Dr O Lewis 

15:45 – 16:00 Comfort Break  

16:00 – 16:45 Developmental Regression and IMD, Dr Katherine Lewis, Clinical Fellow in Paediatric Metabolic Medicine, Evelina London Children’s Hospital

16:45 – 17:00 Discussion and close