Contact: Box: 157; Tel: 01223 336 864; Departmental Fax: 01223 336 846; Clinic 12 enquiries: 01223 217 452; Gaucher's helpline: Tel: 01223 216 295.

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 approach to multi-system metabolic disease.

Adult metabolic diseases that are treated include:

  • Gaucher's disease (Addenbrooke's Gaucher's website);

  • Fabry's disease and other lysosomal disorders;

  • Haemochromatosis;

  • The porphyrias (cutaneous and hepatic);

  • Biochemical defects in red cells;

  • Disorders of carbohydrate metabolism (excluding diabetes);

  • Lipid disorders;

  • Disorders of iron metabolism;

  • Lysosomal storage disorders including Fabry’s disease, Niemann-Pick disease, Tay-Sachs disease, metachromatic leucodystrophy and others.

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

In addition, the Unit works closely with the Liver Service to provide treatment for patients who have hepatic diseases and with the Department of Clinical Biochemistry and Radiology to monitor the responses of patients receiving enzyme replacement therapy. Inpatient facilities are available for detailed investigation and therapy.

The Gaucher’s Service

The Gaucher’s Service is funded nationally from the National Specialist Commissioning Advisory Group of the Department of Health. It oversees the largest group of patients with Gaucher's disease in the UK, and an active programme is under way to improve its treatment (Addenbrooke's Gaucher's website).

Members of the group conduct externally-funded clinical and laboratory studies into the pathogenesis and therapeutic correction of these metabolic diseases.

Key contacts:

  • Director and Senior Clinician in General Internal Medicine: Professor TM Cox (Secretary: Mrs Joan Grantham) Tel: 01223 336 864 (specialist interest in metabolic diseases);

  • Honorary Consultant Physician: Dr PB Deegan

  • Clinical Lecturer: Dr PD Flynn;

  • Wellcome Trust Clinician Scientist and Research Fellow: Dr RH Lachmann;

  • Service Manager: Mrs Ade Adigon-Harris Tel: 01223 216 571, Hospital bleep: 152-297;

  • Sister: Mrs Katy Posey Tel: 01223 274 634, Hospital bleep: 152-421.

 
Last updated: 10 November 2004
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