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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.