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

Molecular Genetics and Metabolism

Volumn 93, Issue 4, 2008, Pages 363-370

  Arnold, Georgianne L ^a   Koeberl, Dwight D ^b   Matern, Dietrich ^c   Barshop, Bruce ^d   Braverman, Nancy ^e   Burton, Barbara ^f   Cederbaum, Stephen ^g   Fiegenbaum, Annette ^h   Garganta, Cheryl ⁱ   Gibson, James ^j   Goodman, Stephen I ^k   Harding, Cary ^l   Kahler, Stephen ^m   Kronn, David ⁿ   Longo, Nicola ^o  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c Laboratory Medicine and Pathology   (United States)

^d RADY CHILDREN'S HOSPITAL   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ TUFTS MEDICAL CENTER   (United States)

^j UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^k UNIVERSITY OF COLORADO   (United States)

^l OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^m UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

ⁿ NEW YORK UNIVERSITY   (United States)

^o UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

3 Methyl crotonyl CoA carboxylase deficiency; Biotin; Carnitine; Clinical practice guideline; Consensus; Delphi; Diagnosis; Glycine; Leucine; Management

Indexed keywords

BIOTIN; CARNITINE; GLYCINE; LEUCINE;

3 METHYLCROTONOYL COENZYME A CARBOXYLASE DEFICIENCY; ARTICLE; CALORIC INTAKE; CLINICAL PRACTICE; CLINICAL TRIAL; DELPHI STUDY; DIAGNOSTIC PROCEDURE; DIET RESTRICTION; ENZYME DEFICIENCY; EVIDENCE BASED MEDICINE; HUMAN; MEDICAL LITERATURE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN RESTRICTION;

CARBON-CARBON LIGASES; CARNITINE; DELPHI TECHNIQUE; ENERGY INTAKE; HUMANS; INFANT, NEWBORN; LEUCINE; METABOLISM, INBORN ERRORS; MOTHERS; NEONATAL SCREENING;

EID: 40849118431     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.11.002     Document Type: Article

References (33)

1. Chace D.H., Kalas T.A., and Naylor E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin. Chem. 49 (2003) 1797-1817
2. Watson M.S., Lloyd-Puryear M.A., Mann M.Y., Rinaldo P., and Howell R.R. Main report. Genet. Med. 8 (2006) 12S-252S
3. Watson M.S., Mann M.Y., Lloyd-Puryear M.A., and Rinaldo P. Executive summary. Genet. Med. 8 (2006) 1S-11S
4. Dougherty F.E., and Levy H.L. Present newborn screening for phenylketonuria. Ment. Retard. Dev. Disabil. Res. Rev. 5 (1999) 144-149
5. Sweetman L., and Williams J.A. Branched chain organic acidurias. In: Scriver C.R., Buadet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disorders. eighth ed. (2001), McGraw-Hill, NY 2125-2168
6. Beemer F.A., Bartlett K., Duran M., Ghneim H.K., Wadman S.K., Bruinvis L., and Ketting D. Isolated biotin-resistant 3-methylcrotonyl-CoA-carboxylase deficiency in two sibs. Eur. J. Pediatr. 138 (1982) 351-354
7. Elpeleg O.N., Havkin S., Barash V., Jacobs C., Glick B., and Shalev R.S. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. J. Pediatr. 121 (1992) 407-410
8. Ihara K., Kuromar R., Inoue Y., Kuhara T., Matsumoto I., Yoshino M., and Fukushige J. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease. Eur. J. Pediatr. 156 (1997) 713-715
9. Mourmans J., Bakkeren J., de Jong J., Wevers R., van Diggelen O.P., Suormala T., Baumgartner R., and Wendel U. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J. Inherit. Metab. Dis. 18 (1995) 643-645
10. Pearson M.A., Aleck K.A., and Heidenriech R.A. Benign clinical presentation of 3-methylcrotonylglycinuria. J. Inherit. Metab. Dis. 18 (1995) 640-641
11. Rutledge S.L., Berry G.T., Stanley C.A., van Hove J.L.K., and Millington D. Glycine and l-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J. Inherit. Metab. Dis. 18 (1995) 299-305
12. Roschinger W., Millington D.S., Gage D.A., Huang H.-Z., Iwamoto T., Yanoo S., Packman S., Johnston K., Berry S.A., and Sweetman L. 3-Hydroxyisovalerylcarnitine in patient swith deficiency of 3-methylcrotonyl CoA carboxylase. Clin. Chim. Acta 240 (1995) 35-51
13. Koeberl D.D., Millilngton D.S., Smith W.E., Weavil S.D., Muenzer J., McCandless S.E., Kishnani P.S., McDonald M.T., Chaing S., Boney A., Moore E., and Frazier D.M. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J. Inherit. Metab. Dis. 26 (2003) 25-35
14. Gibson K.M., Bennett M.J., Naylor E.W., and Morton D.H. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J. Pediatr. 132 (1998) 519-523
15. Dantas M.F., Suormala T., Randolf A., Doelho D., Fowler J.B., Valle D., and Baumgartner M.R. 3-Methylcrotonyl CoA carboxylase deficiency mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum. Mutat. 26 (2005) 164
16. Ficicioglu C., and Payan I. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics 118 (2006) 2555-2556
17. D. Matern, P. Rinaldo, Medium-chain acyl-coenzyme A Dehydrogenase Deficiency. GeneReviews: Genetic Disease Online Reviews at GeneTests-Geneclinics, University of Washington, Seattle, Database Online.
18. Frasier D.M., Millington D.S., McCandless S.E., Koeberl D.D., Weavil S.D., Chaing S.H., and Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J. Inherit. Metab. Dis. 29 (2006) 76-85
19. Centre for Evidence-based Medicine, (accessed 19.05.07).
20. H.A. Linstone, M. Turof, The Delphi method: techniques and applications, Addison-Wesley Pub. Co., Reading, Mass. 1975, (accessed 19.05.07).
21. Powell C. The Delphi technique: myths and realities. J. Adv. Nurs. 41 (2003) 376-382
22. Behrens A., Doyle J.J., Stern L., Chuck R.S., McDonnell P.J., Azar D.T., Dua H.S., Hom M., Karpecki P.M., Laibson P.R., Lemp M.A., Meisler D.M., Del Castillo J.M., O'Brien T.P., Pflugfelder S.C., Rolando M., Schein O.D., Seitz B., Tseng S.C., van Setten G., Wilson S.E., and Yiu S.C. Dysfunctional tear syndrome: a Delphi approach to treatment recommendations. Cornea 25 (2006) 900-907
23. Murphy M.K., Black N.A., Lamping D.L., McKee C.M., Sanderson C.F., Askham J., and Marteau T. Consensus development methods, and their use in clinical guideline development. Health Technol. Assess. 2 (1998) 1-88
24. G. Berry, S.I. Goodman, D. Marsden, D. Matern, W. Nyhan, Newborn Screening ACT Sheet [Elevated C5-OH Acylcarnitine], American College of Medical Genetics ACT sheet, accessed at (accessed 21.05.2007).
25. Wolfe L.A., Finegold D.N., Vockley J., Walters N., Chambaz C., Suormala T., Koch H.G., Matern D., Barshop B.A., Cropcho L.J., Baumgartner M.B., and Gibson K.M. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics 120 (2007) e1335-e1390
26. Tuchman M., Berry S.A., Thuy L.P., and Nyhan W.L. Partial methylcrotonyl-conenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics 91 (1993) 664-666
27. Stadler S., Polanetz R., Maier E., Heidenreich S., Niederer B., Mayerhofer U.P., Lagler F., Koch H.-G., Santer R., Fletcher J.M., Ranieri E., Das A.M., Spiekerkotter U., Schwab K.O., Potzsch S., Marquardt I., Hennermann J.B., Knerr I., Mercimek-Mahmutoglu S., Kohlschmidt N., Liebl B., Fingerhut R., Olgemoller B., Muntau A.C., Roscher A.A., and Roschinger W. Newborn screening for 3-methylcrotonyl CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum. Mutat. 27 (2006) 758-759
28. New England Consortium of Metabolic Programs, (accessed 21.05.07).
29. Fries M.H., Rinaldo P., Schmidt-Sommerfeld E., Jurecki E., and Packman S. Isolvaeric acidemia; response to a leucine load after three weeks of supplementation with glycine, l-carnitine and combined glycine-carnitine therapy. J. Pediatr. 149 (1996) 449-452
30. Lehnert W., Niederhoff H., Suormala T., and Buamgartner F.R. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. Eur. J. Pediatr. 155 (1996) 568-572
31. Visser G., Suormala T., Smit G.P., Reijngoud D.J., Bink-Boelkens M.T., Niezen-Koning K.E., and Baumgartner F.R. 3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay. Eur. J. Pediatr. 159 (2000) 901-904
32. Proulx F., Lacroix J., Qureshi I.A., Nadeau D., Gauthier M., and Lambert M. Acquired carnitine abnormalities in critically ill children. Eur. J. Pediatr. 156 (1997) 864-869
33. Friebel D., von der Hagen M., Baumgartner E.R., Fowler B., Hahn G., Fehy P., Heubner G., Baumgartner M.R., and Hoffman G.F. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Neuropediatrics 37 (2006) 72-78