3MCC
MCID: 3MT001
MIFTS: 37

3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC) malady

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 An amino acid metabolic disorder that has material basis in mutations in the mccc1 and mccc2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-coa carboxylase that helps break down proteins containing the amino acid leucine. this disease has symptom muscular hypotonia (weak muscle tone), has symptom muscular atrophy, has symptom feeding difficulties, has symptom recurrent episodes of vomiting and diarrhea, and has symptom lethargy.

MalaCards: 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to 3 methylcrotonyl-coa carboxylase 1 deficiency and biotin deficiency, and has symptoms including lethargy, muscular hypotonia (weak muscle tone) and muscular atrophy. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (methylcrotonoyl-CoA carboxylase 1 (alpha)), and among its related pathways are Metabolism of vitamins and cofactors and Saturated fatty acid biosynthesis. The compounds (E)-2-Methylglutaconic acid and 3-methylglutaconyl-coa have been mentioned in the context of this disorder. Affiliated tissues include cortex.

Description from OMIM:46 210210,210200

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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8Disease Ontology, 42NIH Rare Diseases, 60UMLS, 46OMIM
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Aliases & Descriptions:

3-methylcrotonyl-coa carboxylase deficiency 8 42
3-methylcrotonylglycinuria 8 42
isolated 3-methylcrotonyl-coa carboxylase deficiency 42
3-methylcrotonyl coa carboxylase 1 deficiency 60
3-mcc deficiency 42
bmcc deficiency 8
3mcc deficiency 8
mcc deficiency 42
3mcc 42


External Ids:

Disease Ontology8 DOID:0050710

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Clinical Features for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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46OMIM, 8Disease Ontology
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Clinical features from OMIM:

210210,210200

Symptoms:

8
  • lethargy
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Drug clinical trials:

Search ClinicalTrials for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search CenterWatch for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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32MalaCards
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MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

32
Cortex

Animal Models for 3-Methylcrotonyl-Coa Carboxylase Deficiency or affiliated genes

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Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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50PubMed
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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 40)
idTitleAuthorsYear
1
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
2
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
3
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
4
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
5
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
6
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
7
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
8
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
9
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
10
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
11
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
12
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
13
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. (16773504)
2006
14
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
15
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
16
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
17
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
18
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
19
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
20
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
21
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. (14612443)
2004
22
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (15359379)
2004
23
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. (12872837)
2003
24
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. (14518828)
2003
25
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
26
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
27
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
28
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
29
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
30
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
31
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
32
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
33
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
34
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
35
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
36
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
37
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
38
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
39
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
40
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (7128647)
1982

Genetic Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Expression for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase Deficiency.

Pathways for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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24HMDB, 44Novoseek, 11DrugBank
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Compounds related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(E)-2-Methylglutaconic acid249.8MCCC1, MCCC2
23-methylglutaconyl-coa44 2410.8MCCC1, MCCC2
33-methylcrotonyl-coa44 2410.7MCCC1, MCCC2
4biotin44 11 2411.6MCCC1, MCCC2
511beta-hydroxysteroid449.4ACADS, CGB5
617beta-hydroxysteroid449.3ACADS, CGB5
7oestriol449.3CGB7, CGB5
8ctp449.2CGB5, CGB7
9bleomycin44 119.8CGB7, CGB5

GO Terms for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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16Gene Ontology
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Cellular components related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.5ACADS, HMGCL, MCCC1, MCCC2
2mitochondrial matrixGO:0057598.2ACADS, HMGCL, MCCC1, MCCC2

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:0067689.8MCCC2, MCCC1
2branched-chain amino acid catabolic processGO:0090839.7MCCC2, MCCC1
3water-soluble vitamin metabolic processGO:0067679.5MCCC2, MCCC1
4response to starvationGO:0425949.4ACADS, HMGCL
5cellular lipid metabolic processGO:0442559.3HMGCL, ACADS
6vitamin metabolic processGO:0067669.3MCCC1, MCCC2
7leucine catabolic processGO:0065529.2HMGCL, MCCC1, MCCC2
8small molecule metabolic processGO:0442818.5MCCC2, MCCC1, HMGCL, ACADS

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:0000629.3ACADS, HMGCL
2methylcrotonoyl-CoA carboxylase activityGO:0044859.3MCCC1, MCCC2

Products for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet