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3 Methylcrotonyl-CoA carboxylase 1 deficiency(MCC1D)

MedGen UID:
468532
Concept ID:
CN028786
Disease or Syndrome
Synonyms: 3 Alpha methylcrotonylglycinuria 1; MCC 1 deficiency; MCC1D; MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency; MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I
 
Gene (location): MCCC1 (3q27.1)
OMIM®: 210200

Definition

3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition.The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
[from GHR]

Recent clinical studies

Etiology

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.
Mol Genet Metab 2016 May;118(1):15-20. Epub 2016 Feb 15 doi: 10.1016/j.ymgme.2016.02.002. PMID: 27033733
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
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M
Clin Genet 2015 Nov;88(5):484-8. Epub 2014 Dec 23 doi: 10.1111/cge.12535. PMID: 25382614
Jung CW, Lee BH, Kim JH, Kim GH, Lee J, Choi JH, Yoo HW
J Hum Genet 2012 Jan;57(1):62-4. Epub 2011 Oct 27 doi: 10.1038/jhg.2011.116. PMID: 22030835

Diagnosis

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.
Mol Genet Metab 2016 May;118(1):15-20. Epub 2016 Feb 15 doi: 10.1016/j.ymgme.2016.02.002. PMID: 27033733
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
Minkler PE, Stoll MS, Ingalls ST, Kerner J, Hoppel CL
Mol Genet Metab 2015 Dec;116(4):231-41. Epub 2015 Oct 8 doi: 10.1016/j.ymgme.2015.10.002. PMID: 26458767Free PMC Article
Alshumrani GA, Patay Z
Ann Saudi Med 2015 Jan-Feb;35(1):64-8. doi: 10.5144/0256-4947.2015.64. PMID: 26142941
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

Prognosis

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.
Mol Genet Metab 2016 May;118(1):15-20. Epub 2016 Feb 15 doi: 10.1016/j.ymgme.2016.02.002. PMID: 27033733
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M
Clin Genet 2015 Nov;88(5):484-8. Epub 2014 Dec 23 doi: 10.1111/cge.12535. PMID: 25382614
Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA
Mol Genet Metab 2013 Dec;110(4):477-83. Epub 2013 Sep 17 doi: 10.1016/j.ymgme.2013.09.006. PMID: 24103308
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
Jung CW, Lee BH, Kim JH, Kim GH, Lee J, Choi JH, Yoo HW
J Hum Genet 2012 Jan;57(1):62-4. Epub 2011 Oct 27 doi: 10.1038/jhg.2011.116. PMID: 22030835

Clinical prediction guides

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.
Mol Genet Metab 2016 May;118(1):15-20. Epub 2016 Feb 15 doi: 10.1016/j.ymgme.2016.02.002. PMID: 27033733
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M
Clin Genet 2015 Nov;88(5):484-8. Epub 2014 Dec 23 doi: 10.1111/cge.12535. PMID: 25382614
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

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