Treatments

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