A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

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• 作者：Georgianne L. Arnold ; Dwight D. Koeberl ; Dietrich Matern ; Bruce Barshop ; Nancy Braverman ; Barbara Burton ; Stephen Cederbaum ; Annette Fiegenbaum ; Cheryl Garganta ; James Gibson ; Stephen I. Goodman ; Cary
• 关键词：3-Methyl-crotonyl CoA carboxylase deficiency ; Delphi ; Clinical practice guideline ; Diagnosis ; Management ; Consensus ; Carnitine ; Leucine ; Biotin ; Glycine
• 刊名：Molecular Genetics and Metabolism
• 出版年：2008
• 出版时间：April 2008
• 年：2008
• 卷：93
• 期：4
• 页码：363-370
• 全文大小：154 K

文摘

3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was convened to develop consensus-based clinical practice guidelines for the diagnosis and management of 3-MCC screen-positive infants and their mothers. 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).