South West Regional Metabolic Study Day

Category: Training - Other

Date: April 12th 2018 8:45am until 4:30pm


8th South West Regional Metabolic Study Day

DATE : Thursday 12th April 2018
TIME : 0845 – 1630
VENUE : Holiday Inn, Taunton
Hosted by Dr Germaine Pierre & Dr Effie Chronopoulou
Paediatric Metabolic Consultants, Bristol Royal Hospital for Children




A one day meeting for all healthcare professionals involved in any aspect of care of children affected by
inherited metabolic disease and their families. It is of particular relevance to Paediatricians,
Neonatologists, Geneticists, Junior Doctors, Biochemists, Nurses, Pharmacists & Dietitians


Topics to include :

Recognising metabolic disease in the newborn –clinician

Challenges of Investigating metabolic disease in the newborn -biochemistry
Hyperammonaemia from infancy to adulthood
Drugs used to treat hyperammonaemia –pharmacy
Managing the baby at risk of hyperammonaemia
The child with raised homocysteine
Role of dietetics in metabolic disorders
LSDs –case presentation and patient perspective

The afternoon session will include parallel workshops :
Breastfeeding in IMDS/Ketogenic diets in IMDS

Metabolic screening investigations: Right sample, right time/What do my patient results mean? A Biochemist’s guide to results interpretation.


The registration fee is £25.00, to include refreshments and lunch.


To request a registration form please email Jacqui McAleer, JM Associates on

Tel No 07836 650782


This meeting will be an independent meeting with exhibition stands and support from the
Pharmaceutical Industry