Guidelines and Resources

This website contains general information about medical conditions and treatments. The information is not advice, and should not be treated as such.

Guidelines committee welcomes comments and these can be sent to Dr. Michal Inbar-Feigenberg, chair of the guidelines committee at michal.inbar-feigenberg@sickkids.ca

Table of Contents

Amino Acid- and Organic Acid Metabolism

GA1-guidelines-2nd-revision.pdf

Glutaric Aciduria

Tyrosinemia-type-1-recommendations.pdf

Tyrosinemia Type 1 Recommendations

Links for PKU Guidelines

NIH PKU conference and Agency for healthcare research and quality

Carbohydrate Metabolism

Garrod-Association-Letter-Oct-7-2021.pdf

D-tagatase, Hereditary Fructose Intolerance and Health Canada approval

Lysosomal Storage Disorders

MPS-II.Consensus.d11.June111.pdf

MPS II – Consensus Position Statement

NPC-Canadian-Guidelines-June-5-2015.pdf

Niemann Pick C

Morquio-A-Guidelines.pdf

Elosulfase alfa in the management of Morquio A Syndrome

pompe-disease-diagnosis-and-management-evidence-based-guidelines-from-a-canadian-expert-panel-div.pdf

Pompe Disease Guidelines

Fabry Disease

Treatment-eligibility-form-Dec-2018-For-Sites.pdf

Enzyme Replacement Treatment Eligibility Form

Canadian-Fabry-Treatment-Guidelines-2018-final.pdf

Treatment Guidelines

Gaucher Disease

ONTARIO-GUIDELINES-FOR-TREATMENT-OF-GAUCHER-August-2011-2.pdf

Guidelines for Gaucher Disease

ONTARIO GUIDELINES FOR TREATMENT OF GAUCHER DISEASE BY ENZYME REPLACEMENT WITH IMIGLUCERASE OR VELAGLUCERASE, OR SUBSTRATE REDUCTION THERAPY WITH MIGLUSTAT (Version 9; August 2011)

Congenital Disorders of Glycosylation

2021_Altasan_PGM1CDGGuidelines_JIMD.pdf

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)

Other

Hypophophatasia

Canadian-HPP-Clinical-Expert-Committee-TOR-June-26-2018.pdf

Terms of Reference for the National Canadian HPP Clinical Expert Committee

HPP-Prescribing-Criteria-Overview-June-27-2018.pdf

Prescribing Criteria
Overview

HPP-ERT-Application-Clinical-Summary-Form.pdf

HPP ERT
Application Form

HPP-Neonatal-Guidelines.pdf

HPP Neonatal
Guidelines

HPP-Treatment-References-2016-2019.pdf

HPP Treatment
References