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

J of Inher Metab Disea - 2021 - Forny - Guidelines for the diagnosis and management of methylmalonic acidaemia and.pdf

Methylmalonic aciduria/propionic aciduria

MMA_PA_suppplimentation.pdf

MMA/PA suppplimentation

Links for PKU Guidelines

NIH PKU conference and Agency for healthcare research and quality

Carbohydrate Metabolism

Lysosomal Storage Disorders

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

Pompe Disease Guidelines

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

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

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

D-tagatase, Hereditary Fructose Intolerance and Health Canada approval

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

Evaluation and endorsement of existing guidelines using the AGREE II tool

Summary of tyrosinemia I guideline review using the AGREE II tool_April_13_2023.pdf

Diagnosis and treatment of tyrosinemia type I

summary of PA-MMA guideline review using the AGREE II tool_April_13_2023.pdf

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia

summary of GA1 guidline review using the AGREE II tool_April_13_2023.pdf

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I

Summary of Pompe guidelines review using the AGREE II tool_December_29_2022.docx

Pompe Disease, Summary of Guidelines Review, Dec. 2022

AGREE-Reporting-Checklist-2016.pdf

AGREE-Reporting-Checklist-2016