Guidelines & Resources

The following published guidelines have been reviewed by the Garrod Association Guidelines Committee for quality using the AGREE II framework (Appraisal of Guidelines for Research and Evaluation II), a standardized tool used to assess the methodological rigor and transparency of guideline development.

These represent the most recent international guidelines identified by the committee. It is important to note that guidelines in rare diseases are often based on the best available evidence, which may be limited.

These documents are intended to support, not replace, clinical judgment. Clinicians are encouraged to consider both the content of the guidelines and the results of the AGREE II appraisal when interpreting their quality and applicability to individual patients.

 The Guidelines Committee welcomes comments and these can be sent to guidelines@garrod.ca.

Table of Contents

Amino Acid- and Organic Acid Metabolism

• Glutaric Aciduria
• Tyrosinemia Type 1 Recommendations
• Methylmalonic aciduria/propionic aciduria
• MMA/PA Supplementation
• Links for PKU Guidelines
  • NIH PKU conference and Agency for healthcare research and quality
    • PKU – Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs (Day 1), February 22, 2012. Sponsored by: NICHD, the Office of Rare Diseases Research and the Office of Dietary Supplements
    • PKU – Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs (Day 2), February 23, 2012. Sponsored by: NICHD, the Office of Rare Diseases Research and the Office of Dietary Supplements

Carbohydrate Metabolism

• no resources available at this time

Lysosomal Storage Disorders

• Pompe Disease Guidelines
• MPS II – Consensus Position Statement
• Niemann Pick C
• Elosulfase alfa in the management of Morquio A Syndrome
• Fabry Disease
  • Enzyme Replacement Treatment Eligibility Form
  • Treatment Guidelines
• 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

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

Other

• Hypophophatasia
  • Terms of Reference for the National Canadian HPP Clinical Expert Committee
  • Prescribing Criteria Overview
  • HPP ERT Application Form
  • HPP Neonatal Guidelines
  • HPP Treatment References
  • D-tagatase, Hereditary Fructose Intolerance and Health Canada Approval

Evaluation and Endorsement of Existing Guidelines using the AGREE II Tool

• Diagnosis and treatment of tyrosinemia type I
• Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia
• Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I
• Pope Disease, Summary of Guidelines Review, Dec. 2022
• AGREE-Reporting-Checklist-2016