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Inherited metabolic diseases (IMD)

The team is made up of experienced dietitians and dietetic assistants. Based at Queen Elizabeth Hospital Birmingham (QEHB), they see patients in clinic at the Centre for Rare Diseases in the Heritage Building.

Conditions we manage

  • Phenylketonuria (PKU)
  • Tyrosinaemia (TYR)
  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Urea cycle disorders 
  • Organic acidaemias e.g. GA1, IVA, MMA, PA 
  • Fatty acid oxidation disorders e.g. MCADD, LCHADD, VLCADD, CPT1, CPT2 
  • Carbohydrate Disorders e.g. galactosaemia, glycogen storage disorders, fructosaemia.  
  • Trimethylaminurea (TMAU) 
  • Rare lipid disorders e.g. familial chylomicronemia syndrome (FCS)  
  • Alstrom Syndrome 

What to expect 

The dietetic team attends the multidisciplinary team metabolic clinics and sees patients alongside the doctors. Additional dietetic appointments can be offered between clinic visits if further support is needed. When specialist prescription products are required, the team can discuss individual needs, write to the GP, and arrange home delivery services if preferred.

The team also runs PKU clinics four times a year and leads a monthly young persons’ clinic for individuals with amino acid disorders.

Who we work with

The team work very closely with the IMD multidisciplinary team i.e. the IMD doctors, nurses, pharmacists, physiotherapist and research team.

How to be referred

The IMD dietitians only see patients that are under the IMD team/doctors. If you have an IMD then you would need to ask your GP to refer you to the IMD team at Queen Elizabeth Hospital Birmingham.

Get in touch

Last reviewed: 18 November 2025