Conditions
We treat rare inherited metabolic disorders. Some conditions
need special diets and emergency management plans during even minor
illness.
- Phenylketonuria (PKU)
- Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and
other fatty acid oxidation disorders
- Maple syrup urine disease (MSUD), propionic acidaemia and
other organic acidaemias
- Homocystinuria
- Urea cycle disorders such as OTC (Ornithine transcarbamylase
deficiency)
- Glycogen storage diseases
- Galactosaemia
- Lipid disorders, including hypercholesterolaemia,
hypertriglyceridaemia
- Zellwegers and other Peroxisomal disorders
- Mitochondrial disorders and other neurometabolic disorders
- Lysosomal storage disorders (in conjunction with lysosomal
storage disease centres)
