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

作者：Arnold Georgianne L^*; Van Hove Johan; Freedenberg Debra; Strauss Arnold; Longo Nicola; Burton Barbara; Garganta Cheryl; Ficicioglu Can; Cederbaum Stephen; Harding Cary; Boles Richard G; Matern Dietrich; Chakraborty Pranesh; Feigenbaum Annette

来源：Molecular Genetics and Metabolism, 2009, 96(3): 85-90.

DOI：10.1016/j.ymgme.2008.09.008

• Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Fatty acid oxidation
• Delphi
• Clinical practice protocol
• Newborn screening

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.

• 出版日期2009-3
• 单位西北大学