Canadian Association for Porphyria

Canadian Research

Porphyria Research in Canada

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups


Authors: Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Fiona A Miller, John J. Mitchell, Chitra Prasad, Shabnaz Siddiq, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stockler, Yannis Trakadis, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN) 

This article is published with open access at



Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patient groups have emerged as important voices within these rare disease communities and are uniquely positioned to contribute to this understanding. We conducted qualitative interviews with IEM patient group representatives to increase understanding of patient and family experiences, needs, and priorities and inform patient-centered research and care.

Medical Disclaimer

Care has been taken to ensure that the information on this website is accurate at the time of publication. This information is, however, intended for general guidance only and is not meant to substitute consultation from a recognized health professional. The Canadian Association for Porphyria/Association Canadienne de Porphyrie disclaims for itself and for the author of this information, all responsibility for any mis-statements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.

Powered by Wild Apricot Membership Software