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

被引：44

作者：

Arnold, Georgianne L. ^{[1
]}

Koeberl, Dwight D. ^{[2
]}

Matern, Dietrich ^{[3
,4
,5
]}

Barshop, Bruce ^{[6
]}

Braverman, Nancy ^{[7
]}

Burton, Barbara ^{[8
]}

Cederbaum, Stephen ^{[9
,10
,11
]}

Fiegenbaum, Annette ^{[12
]}

Garganta, Cheryl ^{[13
]}

Gibson, James ^{[19
]}

Goodman, Stephen I. ^{[14
]}

Harding, Cary ^{[15
]}

Kahler, Stephen ^{[16
]}

Kronn, David

Longo, Nicola ^{[17
,18
]}

机构：

[1] Univ Rochester, Sch Med & Dent, Dept Pediat, Rochester, NY 14642 USA

[2] Duke Univ, Med Ctr, Div Med Genet, Durham, NC 27705 USA

[3] Mayo Clin, Coll Med, Dept Lab Med & Pathol, Rochester, MN USA

[4] Mayo Clin, Coll Med, Dept Pediat & Adolscent Med, Rochester, MN USA

[5] Mayo Clin, Coll Med, Dept Med Genet, Rochester, MN USA

[6] Univ Calif San Diego, Dept Pediat, Rady Childrens Hosp, San Diego, CA 92103 USA

[7] Johns Hopkins Med Ctr, Dept Pediat, Inst Med Genet, Baltimore, MD USA

[8] Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA

[9] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA USA

[10] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA USA

[11] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA USA

[12] Hosp Sick Children, Toronto, ON, Canada

[13] Tufts Univ New England Med Ctr, Dept Pediat, Boston, MA USA

[14] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[15] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[16] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA

[17] Univ Utah, Dept Med Genet, Salt Lake City, UT USA

[18] Univ Utah, Dept Pediat, Salt Lake City, UT USA

[19] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 78229 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 93卷 / 04期

关键词：

3-methyl-crotonyl CoA carboxylase deficiency; Delphi; clinical practice guideline; diagnosis; management; consensus; carnitine; leucine; biotin; glycine;

D O I：

10.1016/j.ymgme.2007.11.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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). Panelists reviewed the initial evaluation of the screen-positive infant-mother dyad, diagnostic guidelines, and management of diagnosed patients. Grade D consensus recommendations were made in each of these three areas. The panel did not reach consensus on all issues. This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：363 / 370

页数：8

共 31 条

[1]

[Anonymous], DELPHI METHOD TECHNI

[2] ISOLATED BIOTIN-RESISTANT 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN 2 SIBS [J].

BEEMER, FA ;

BARTLETT, K ;

DURAN, M ;

GHNEIM, HK ;

WADMAN, SK ;

BRUINVIS, L ;

KETTING, D .

EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (04) :351-354

[3] Dysfunctional tear syndrome - A Delphi approach to treatment recommendations [J].

Behrens, Ashley ;

Doyle, John J. ;

Stern, Lee ;

Chuck, Roy S. ;

McDonnell, Peter J. ;

Azar, Dimitri T. ;

Dua, Harminder S. ;

Hom, Milton ;

Karpecki, Paul M. ;

Laibson, Peter R. ;

Lemp, Michael A. ;

Meisler, David M. ;

Murube del Castillo, Juan ;

O'Brien, Terrence P. ;

Pflugfelder, Stephen C. ;

Rolando, Maurizio ;

Schein, Oliver D. ;

Seitz, Berthold ;

Tseng, Scheffer C. ;

van Setten, Gysbert ;

Wilson, Steven E. ;

Yiu, Samuel C. .

CORNEA, 2006, 25 (08) :900-907

[4]

BERRY G, NEWBORN SCREENING AC

[5] Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns [J].

Chace, DH ;

Kalas, TA ;

Naylor, EW .

CLINICAL CHEMISTRY, 2003, 49 (11) :1797-1817

[6]

Dantas Maria Fernanda, 2005, Hum Mutat, V26, P164, DOI 10.1002/humu.9352

[7]

Dougherty FE, 1999, MENT RETARD DEV D R, V5, P144, DOI 10.1002/(SICI)1098-2779(1999)5:2<144::AID-MRDD9>3.0.CO

[8]

2-B

[9] FAMILIAL HYPOTONIA OF CHILDHOOD CAUSED BY ISOLATED 3-METHYLCROTONYL COENZYME-A CARBOXYLASE DEFICIENCY [J].

ELPELEG, ON ;

HAVKIN, S ;

BARASH, V ;

JAKOBS, C ;

GLICK, B ;

SHALEV, RS .

JOURNAL OF PEDIATRICS, 1992, 121 (03) :407-410

[10] 3-methylcrotonyl-CoA carboxylase deficiency: Metabolic decompensation in a noncompliant child detected through newborn screening [J].

Ficicioglu, Can ;

Payan, Irma .

PEDIATRICS, 2006, 118 (06) :2555-2556

← 1 2 3 4 →