U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Methylcrotonyl-CoA carboxylase deficiency

MedGen UID:
1633312
Concept ID:
C4551505
Disease or Syndrome
Synonyms: 3 Methylcrotonylglycinuria; 3-MCC Deficiency; 3-Methylcrotonyl-CoA Carboxylase Deficiency; Deficiency of methylcrotonoyl-CoA carboxylase
SNOMED CT: 3-Methylcrotonyl-CoA carboxylase deficiency (13144005); Methylcrotonyl-CoA carboxylase deficiency (13144005); BMCC deficiency (13144005); MCC deficiency (13144005); Methylcrotonyl-coenzyme A carboxylase deficiency (13144005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: MCCC2, MCCC1
 
Monarch Initiative: MONDO:0018950
OMIM® Phenotypic series: PS210200
Orphanet: ORPHA6

Definition

An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively. [from SNOMEDCT_US]

Professional guidelines

PubMed

Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X
Clin Chim Acta 2023 Mar 1;542:117266. Epub 2023 Feb 21 doi: 10.1016/j.cca.2023.117266. PMID: 36822454
Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. PMID: 31730530
Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L
Gene 2016 Dec 15;594(2):203-210. Epub 2016 Sep 4 doi: 10.1016/j.gene.2016.09.003. PMID: 27601257

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022

American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Recent clinical studies

Etiology

Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. PMID: 31730530
Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R
J Inherit Metab Dis 2016 Mar;39(2):211-7. Epub 2015 Nov 13 doi: 10.1007/s10545-015-9899-4. PMID: 26566957
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T
J Hum Genet 2007;52(12):1040-1043. Epub 2007 Oct 30 doi: 10.1007/s10038-007-0211-9. PMID: 17968484
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W
Hum Mutat 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. PMID: 16835865
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D
J Clin Invest 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948. PMID: 11181649Free PMC Article

Diagnosis

Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X
Clin Chim Acta 2023 Mar 1;542:117266. Epub 2023 Feb 21 doi: 10.1016/j.cca.2023.117266. PMID: 36822454
Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. PMID: 31730530
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N
Mol Genet Metab 2008 Apr;93(4):363-70. Epub 2007 Dec 21 doi: 10.1016/j.ymgme.2007.11.002. PMID: 18155630
Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M
J Inherit Metab Dis 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. PMID: 15877210

Therapy

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N
Mol Genet Metab 2008 Apr;93(4):363-70. Epub 2007 Dec 21 doi: 10.1016/j.ymgme.2007.11.002. PMID: 18155630
Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A
Eur J Pediatr 1999 Sep;158(9):730-3. doi: 10.1007/s004310051189. PMID: 10485305
Lehnert W, Niederhoff H, Suormala T, Baumgartner ER
Eur J Pediatr 1996 Jul;155(7):568-72. doi: 10.1007/BF01957906. PMID: 8831079
Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D
J Inherit Metab Dis 1995;18(3):299-305. doi: 10.1007/BF00710419. PMID: 7474896
Stokke O, Eldjarn L, Jellum E, Pande H, Waaler PE
Pediatrics 1972 May;49(5):726-35. PMID: 5035417

Prognosis

Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. PMID: 31730530
Zandberg L, van Dyk HC, van der Westhuizen FH, van Dijk AA
Int J Biochem Cell Biol 2016 Sep;78:116-129. Epub 2016 Jul 12 doi: 10.1016/j.biocel.2016.07.010. PMID: 27417235
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M
J Inherit Metab Dis 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. PMID: 15877210
Murayama K, Kimura M, Yamaguchi S, Shinka T, Kodama K
Brain Dev 1997 Jun;19(4):303-5. doi: 10.1016/s0387-7604(97)86920-3. PMID: 9187484

Clinical prediction guides

Zandberg L, van Dyk HC, van der Westhuizen FH, van Dijk AA
Int J Biochem Cell Biol 2016 Sep;78:116-129. Epub 2016 Jul 12 doi: 10.1016/j.biocel.2016.07.010. PMID: 27417235
Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M
J Pediatr Endocrinol Metab 2015 May;28(5-6):669-71. doi: 10.1515/jpem-2014-0302. PMID: 25381946
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T
J Hum Genet 2007;52(12):1040-1043. Epub 2007 Oct 30 doi: 10.1007/s10038-007-0211-9. PMID: 17968484
van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS
J Inherit Metab Dis 1995;18(5):592-601. doi: 10.1007/BF02436004. PMID: 8598640

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...