Metabolic Disease (Adult Inherited) 

The Charles Dent Metabolic Unit (CDMU) is one of the largest and longest established services in the world for the treatment of adolescents and adults (aged 16 years and older) with inherited metabolic diseases, including, among others, phenylketonuria, homocystinuria, galactosemia, fatty acid oxidation defects, glycogen storage disorders, X-linked hypophosphatemia, peroxisomal and urea cycle defects. 

Staff at the unit provide specialist medical, dietetic, psychological and nursing advice. We have a purpose-built metabolic diet kitchen to support treatment and education of patients.

The unit is also a designated NHS England highly specialised lysosomal storage disorder service and includes an infusion unit which provides the facilities needed for patients on enzyme replacement and other therapies. We see patients with a range of LSDs including Fabry disease, Pompe disease, Gaucher disease, Niemann-Pick diseases, mucolipidoses and the mucopolysaccharidoses.

The unit has a long history of involvement in research and clinical trials of new therapies for inherited disorders of metabolism. A link to current research is available here:

We have strong links with our paediatric colleagues at Great Ormond Street Hospital, sharing laboratory facilities, teaching and training opportunities. We also attend regular joint clinics at Great Ormond Street Hospital to help support adolescents and young adults transferring from paediatric to adult medical services.

We also provide a specialist ketogenic diet therapy service for adults with epilepsy. The specialist ketogenic dietitian is a member of the Ketogenic Dietitians Research Network (KDRN) and runs group education sessions quarterly and provides specialist support for those wishing to undertake ketogenic diet therapy for management of their epilepsy. 

Patients who require a hospital admission for investigations or to start treatment are admitted to a purpose built complex care ward, which is fully adapted to support all physical needs. For those with learning disabilities, every effort is made to ensure that an individual side-room is booked to allow a parent or carer to remain overnight.

For urgent medical advice (eg. suspected acute metabolic decompensation)

To obtain urgent advice by telephone - GPs, A&E staff or other medical staff can contact switchboard (0845 155 5000 or 020 3456 7890) at University College London Hospital, and ask for the consultant-on-call for adult inherited metabolic disorders and lysosomal storage disorders at Queen Square. Emergency guidelines for many inherited metabolic disorders can be found on the British Inherited Metabolic Disease Group website

Conditions treated

We care for adult patients with inherited disorders of metabolism. For many conditions, disease modifying treatments are available, and all patients are offered regular review and symptomatic treatment.

Patient support services

Patient support is provided by two clinical nurse specialists, research nurses, a clinical psychologist, four metabolic dietitians, a dietetic assistant and administrative staff. Which team members are involved with each patient depends on diagnosis, type of treatment and patient need.

Patient aftercare

Individuals with inherited metabolic disorders usually require lifetime follow-up.

Dr Robin Lachmann Metabolic Disease (Adult Inherited)
Dr Elaine Murphy Metabolic Disease (Adult Inherited)

 Contact details

Metabolic Disease (Adult Inherited)
National Hospital for Neurology and Neurosurgery
Charles Dent Matabolic Unit
Box 92
Queen Square
London, WC1N 3BG

Patient enquiries
Telephone: 020 3448 4778

GP enquiries
Telephone: 020 3448 4778
Fax: 020 7209 2146

Service manager - Kira Baden

 Useful links