title: A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA. Georgianne_Arnold@URMC.Rochester.edu
authors.forename: Georgianne L
authors.initials: GL
authors.lastname: Arnold
authors.forename: Dwight D
authors.initials: DD
authors.lastname: Koeberl
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Bruce
authors.initials: B
authors.lastname: Barshop
authors.forename: Nancy
authors.initials: N
authors.lastname: Braverman
authors.forename: Barbara
authors.initials: B
authors.lastname: Burton
authors.forename: Stephen
authors.initials: S
authors.lastname: Cederbaum
authors.forename: Annette
authors.initials: A
authors.lastname: Fiegenbaum
authors.forename: Cheryl
authors.initials: C
authors.lastname: Garganta
authors.forename: James
authors.initials: J
authors.lastname: Gibson
authors.forename: Stephen I
authors.initials: SI
authors.lastname: Goodman
authors.forename: Cary
authors.initials: C
authors.lastname: Harding
authors.forename: Stephen
authors.initials: S
authors.lastname: Kahler
authors.forename: David
authors.initials: D
authors.lastname: Kronn
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
mesh_terms: D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D003697:Delphi Technique; D002149:Energy Intake; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000008:administration & dosage; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D009035:Mothers; D015997:Neonatal Screening
chemical_list: D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D007930:Leucine; D002331:Carnitine