A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Abstract

INTRODUCTION:

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of oxidation of long chain fat, and can present as cardiomyopathy or fasting intolerance in the first months to years of life, or as myopathy in later childhood to adulthood. Expanded newborn screening has identified a relatively high incidence of this disorder (1:31,500), but there is a dearth of evidence-based outcomes data to guide the development of clinical practice protocols. This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available.

METHOD:

The Oxford Centre for Evidence-based Medicine system was used to grade the literature review and create recommendations graded from A (evidence level of randomized clinical trials) to D (expert opinion). Delphi was used as the consensus tool. A panel of 14 experts (including clinicians, diagnostic laboratory directors and researchers) completed three rounds of survey questions and had a face-to-face meeting.

RESULT:

Panelists reviewed the initial evaluation of the screen-positive infant, diagnostic testing and management of diagnosed patients. Grade C and D consensus recommendations were made in each of these three areas. The panel did not reach consensus on all issues, particularly in the dietary management of asymptomatic infants diagnosed by newborn screening.

• Authors: Georgianne L Arnold, Johan Van Hove, Debra Freedenberg, Arnold Strauss, Nicola Longo, Barbara Burton, Cheryl Garganta, Can Ficicioglu, Stephen Cederbaum, Cary Harding, Richard G Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 96 Issue 3 Pg. 85-90 (Mar 2009) ISSN: 1096-7206 [Electronic] United States
• PMID: 19157942 (Publication Type: Journal Article, Practice Guideline)

Chemical References

• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• Acyl-CoA Dehydrogenase, Long-Chain (deficiency)
• Clinical Protocols
• Delphi Technique
• Disease Management
• Female
• Humans
• Infant
• Lipid Metabolism, Inborn Errors (diagnosis, therapy)
• Male
• Randomized Controlled Trials as Topic