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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
  • hypoglycaemia
  • 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

Make an enquiry with children's metabolic service: