Inherited Metabolic Diseases
Bristol Royal Hospital for Children is one of 5 Regional
Specialist Centres for Inherited Metabolic Diseases in England. We
manage the care of children with IMD's with paediatric Dietitians
working in District General Hospitals throughout the South
West.
The specialist metabolic Dietitians are part of the Regional
specialist multidisciplinary team consisting of
consultant paediatricians, specialist nurses, specialist
pharmacist, specialist biochemists, dietetic support worker and
secretaries.
The vast majority of Inherited metabolic diseases present either
at birth or in early infancy and childhood, with some conditions
being picked up on newborn screening at 5-8days of age. Each IMD is
individually rare but collectively account for a significant
proportion off illness, particularly in children.
Inherited metabolic diseases affect all metabolic pathways in
the body and there are currently over 600 known diseases. The
specialist metabolic dietitians will be involved in the management
of about 60% of these where the diet is a major part of the
treatment.
The specialist dietitians provide ongoing dietary education and
support for the family and child as all these conditions are
lifelong. Regular contact is maintained both when the child is an
in-patient as well as ongoing management at home as an
out-patient.
Regular regional dietetic and multidisciplinary educational
meetings are held throughout the South West.
Dietitian guidance
For dietitian guidance please click here.