3MCC
MCID: 3MT001
MIFTS: 36

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

Rare diseases category
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Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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8Disease Ontology, 47OMIM, 33MalaCards
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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 mccc1-related 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including muscular hypotonia (weak muscle tone), muscular atrophy and feeding difficulties. 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 amino acids and derivatives and Defective BTD causes biotidinase deficiency. 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:47 210200,210210

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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8Disease Ontology, 43NIH Rare Diseases, 62UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

3-methylcrotonyl-coa carboxylase deficiency 8 43
3-methylcrotonylglycinuria 8 43
isolated 3-methylcrotonyl-coa carboxylase deficiency 43
3-methylcrotonyl coa carboxylase 1 deficiency 62
3-mcc deficiency 43
bmcc deficiency 8
3mcc deficiency 8
mcc deficiency 43
mccd 43
3mcc 43


External Ids:

Disease Ontology8 DOID:0050710

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
13 methylcrotonyl-coa carboxylase 1 deficiency31.3HMGCL, MCCC2, MCCC1
2mccc1-related 3-methylcrotonyl-coa carboxylase deficiency10.6
3mccc2-related 3-methylcrotonyl-coa carboxylase deficiency10.6
4status epilepticus10.4
5cerebritis10.4
6reye syndrome10.4
7leukodystrophy10.4
8multiple sclerosis10.4
9respiratory failure10.4
10organic acidemia10.0MCCC1
11biotinidase deficiency10.0
12aminoaciduria10.0
13iminoglycinuria10.0

Graphical network of diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Symptoms for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
47OMIM, 8Disease Ontology
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Clinical features from OMIM:

210200,210210

Symptoms:

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

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

33
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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52PubMed
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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 38)
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
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
14
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
15
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
16
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
17
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
18
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
19
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
20
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. (14612443)
2004
21
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (15359379)
2004
22
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. (12872837)
2003
23
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
24
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
25
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
26
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
27
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
28
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
29
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
30
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
31
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
32
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
33
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
34
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
35
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
36
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
37
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
38
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (7128647)
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1MCCC1NM_020166.4(MCCC1): c.974T> G (p.Met325Arg)single nucleotide variantPathogenicrs119103212GRCh37Chr 3, 182763310: 182763310
2MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)single nucleotide variantPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
3MCCC1NM_020166.4(MCCC1): c.1594G> C (p.Asp532His)single nucleotide variantPathogenicrs119103214GRCh37Chr 3, 182755006: 182755006
4MCCC1NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro)single nucleotide variantPathogenicrs119103215GRCh37Chr 3, 182756881: 182756881
5MCCC1NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe)single nucleotide variantPathogenicrs119103216GRCh37Chr 3, 182751856: 182751856
6MCCC1NM_020166.4(MCCC1): c.2079delA (p.Val694Terfs)deletionPathogenicrs119103217GRCh37Chr 3, 182733325: 182733325
7MCCC1NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met)single nucleotide variantPathogenicrs119103218GRCh37Chr 3, 182755220: 182755220

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

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2BioGPS, 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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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.0MCCC2, MCCC1
2
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.0MCCC1, MCCC2
39.0MCCC2, MCCC1
4
Show member pathways
8.5HMGCL, MCCC2, MCCC1
5
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
8.5HMGCL, MCCC2, MCCC1

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

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Sources:
24HMDB, 45Novoseek, 11DrugBank
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Compounds related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(E)-2-Methylglutaconic acid249.1MCCC2, MCCC1
23-methylglutaconyl-coa45 2410.1MCCC2, MCCC1
33-methylcrotonyl-coa45 2410.0MCCC2, MCCC1
4Phosphate249.0MCCC2, MCCC1
5Ceramide (d18:1/16:0)248.9MCCC1, MCCC2
6biotin45 24 1110.7MCCC2, MCCC1

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.3HMGCL, MCCC1
2mitochondrial matrixGO:0057598.4HMGCL, MCCC2, MCCC1
3mitochondrionGO:0057398.2HMGCL, MCCC2, MCCC1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:0067689.1MCCC1, MCCC2
2branched-chain amino acid catabolic processGO:0090839.1MCCC1, MCCC2
3water-soluble vitamin metabolic processGO:0067679.0MCCC2, MCCC1
4cellular nitrogen compound metabolic processGO:0346419.0MCCC2, MCCC1
5vitamin metabolic processGO:0067668.9MCCC2, MCCC1
6leucine catabolic processGO:0065528.7HMGCL, MCCC2, MCCC1
7small molecule metabolic processGO:0442818.2HMGCL, MCCC2, MCCC1

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

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:0044859.0MCCC2, MCCC1

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet