Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. - PubMed - NCBI
Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17.
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Abstract
In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence- and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.
KEYWORDS:
Inborn amino acidopathies; Inborn errors of metabolism; Inherited metabolic disorders; Maple syrup urine disease; Nutrition therapy/diet therapy; Practice guidelines
- PMID:
- 24881969
- [PubMed - indexed for MEDLINE]
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National Guideline Clearinghouse | Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Genetic Metabolic Dietitians International & Southeast Regional Newborn Screening and Genetics ConsortiumNew Developer
Guideline Title
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Bibliographic Source(s)
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014 Jul;112(3):210-7. [72 references] PubMed  |
Guideline Status
This is the current release of the guideline.
This guideline meets NGC's 2013 (revised) inclusion criteria.
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