Our service includes procedures to diagnose patients and acute and long-term management of metabolic disorders.
The most common conditions include:
- amino acid disorders, eg phenylketonuria (PKU), tyrosinaemia
- carbohydrate disorders, eg galactosaemia
- fatty acid oxidation defects, eg medium chain acyl CoA enzyme
- dehydrogenase deficiency (MCADD)
- glycogen storage disorders
- lipid disorders including familial hypercholesterolaemia
- lysosomal storage disorders (LSDs)
- mitochondrial disorders
- organic acid disorders
- purine/pyrimidine disorders
- urea cycle disorders.
Our paediatric metabolic consultants are supported by a team of clinical nurse specialists and metabolic dietitians.
- Dr Mike Champion
- Dr Helen Mundy
- Dr Roshni Vara