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Metabolic Medicine

A GOSH patient's hand
A GOSH patient's hand


The Department of Paediatric Metabolic Medicine provides treatment for rare and complex metabolic conditions in children. The service is the largest of only four paediatric metabolic centres in the UK. We see patients from 0-16 years with suspected or diagnosed metabolic disease. 

The aim of the department is to provide efficient, high quality, multidisciplinary care to children with metabolic disorders. 

Please be aware that private referrals for NHS eligible patients are not possible for Metabolic Medicine. This is because children requiring treatment in this department will need continued and well-co-ordinated care, and good communication from the outset with their local paediatric services is essential.  By entering the private treatment route, we are unable to provide the long term local support services required. 

Conditions we treat

  • Phenylketonuria 
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) 
  • Maple syrup urine disease (MSUD) 
  • Glycogen storage disease (GSD) 
  • Galactosaemia 
  • Organo and amino acidopathies 
  • Urea cycle defects 
  • Familial hypercholesterolaemia (FH) 
  • Congenital disorders of glycosylation (CDG) 
  • Lysosomal storage disorders (LSD) 

Refer your child for treatment

Use the form below to refer your child for treatment. A member of our team will be in touch within 2 working days.

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This is the end of the basic form. Please note, in order to progress with a referral we require a medical report for the patient, therefore if you have this information available now, please click the 'provide more info' button. Alternatively press submit and one of our team will be in touch.
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