Metabolic pathways: networks of care

1 December 2005

In May 2004 the Joint Committee on Medical Genetics commissioned this UK-wide needs assessment and service review for inherited metabolic disease. The work was supported with a grant from the Department of Health and was a major part of the Public Health Genetics Unit 2004/05 work programme. It was lead by Hilary Burton, Consultant in Public Health at the Public Health Genetics Unit, Cambridge and involved a stakeholder group of specialists in the inherited metabolic disease services, commissioners, and voluntary organisations.


The report is available both as an overview with recommendations, and as a full report including the evidence chapter and appendices. Individual chapters and appendices are also available as follows:

Overview and recommendations
Effectiveness and quality
Review of laboratory services
Survey of inherited metabolic disease services
Services for patients with porphyria
Nursing services
Dietitian services
Voluntary organisations
Specialist commissioning
Conclusion: quality revisited

The work is also supported by a slideshow. A set of powerpoint slides can be made available on request.

Please address all further requests for the document, use of slides and further questions to Dr Hilary Burton