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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
  • Ornithine transcarbamylase deficiency (OTC deficiency) and other urea cycle disorders
  • 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)

 

Clinical guidelines

Hyperammonaemia

Enzyme replacement therapy monitoring

Hypoglycaemia investigation

Muscle and skin biopsies in theatre

Skin biopsies on the ward