Addenbrooke's Hospital, Cambridge

Adults and adolescent patients with special problems in inherited metabolic disease may be referred by their doctors for diagnostic advice and clinical assessment as well as dietary and other therapies. The concept is one of a multidisciplinary family-centred approach to multi-system metabolic disease. The service is one of the nationally designated centres for treatment of lysosomal storage diseases.  They currently see a number of adult patients with NPC disease who are on treatment with Zavesca, as well as patients with NPB.

Adult metabolic diseases that are treated include:

· Lysosomal storage disorders including Niemann-Pick disease, Gaucher disease, Fabry disease,

  Tay-Sachs disease,   metachromatic leucodystrophy and others.

· Haemochromatosis and disorders of iron metabolism;

· The porphyrias (cutaneous and hepatic);

· Biochemical defects in red cells;

· Disorders of carbohydrate metabolism (excluding diabetes);

· Lipid disorders;

Outpatient clinics are held at Addenbrooke's Hospital, and the Unit liaises with Clinical Genetics Services and Biochemical Genetics to provide diagnostic counselling, screening and treatment for patients and their relatives with inherited metabolic diseases.

Addenbrooke's Hospital

Cambridge University Hospitals NHS Foundation Trust
Hills Road Cambridge CB2 0QQ

Professor T M Cox

Research Director (Box 157)

Dr Patrick Deegan

Clinical Director (Box 135)

Lead Specialist Sister, Liz Morris (Box 135)

liz.morris@addenbrookes.nhs.uk

Tel No: 01223 348235 Fax No: 01223 256172