3MCC
MCID: 3MT001
MIFTS: 38

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

Rare diseases, Metabolic diseases categories
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Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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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 based summary: 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 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.

Descriptions from OMIM:46 210200,210210

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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3-Methylcrotonyl-Coa Carboxylase Deficiency, Aliases & Descriptions:

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 8 42
3-Methylcrotonylglycinuria 8 42
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 42
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 62
3-Mcc Deficiency 42
 
3mcc Deficiency 8
Bmcc Deficiency 8
Mcc Deficiency 42
Mccd 42
3mcc 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050710

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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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 deficiency30.8HMGCL, MCCC2, MCCC1
2mccc1-related 3-methylcrotonyl-coa carboxylase deficiency10.6
3mccc2-related 3-methylcrotonyl-coa carboxylase deficiency10.6
4multiple sclerosis10.5
5reye syndrome10.5
6status epilepticus10.5
7cerebritis10.5
8leukodystrophy10.5
9respiratory failure10.5
10organic acidemia10.2MCCC1
11biotinidase deficiency10.1
12aminoaciduria10.1
13iminoglycinuria10.1

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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Clinical features from OMIM:

210200,210210

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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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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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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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 39)
idTitleAuthorsYear
1
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. (25381946)
2014
2
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
3
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
4
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
5
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
6
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
7
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
8
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
9
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
10
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
11
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
12
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
13
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
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
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
25
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
26
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
27
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
28
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
29
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
30
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
31
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
32
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
33
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
34
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
35
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
36
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
37
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
38
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
39
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (7128647)
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Clinvar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)single nucleotide variantPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
2MCCC1NM_020166.4(MCCC1): c.1594G> C (p.Asp532His)single nucleotide variantPathogenicrs119103214GRCh37Chr 3, 182755006: 182755006
3MCCC1NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro)single nucleotide variantPathogenicrs119103215GRCh37Chr 3, 182756881: 182756881
4MCCC1NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe)single nucleotide variantPathogenicrs119103216GRCh37Chr 3, 182751856: 182751856
5MCCC1NM_020166.4(MCCC1): c.2079delA (p.Val694Terfs)deletionPathogenicrs119103217GRCh37Chr 3, 182733325: 182733325
6MCCC1NM_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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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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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 biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.0MCCC2, MCCC1
2
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.0MCCC2, MCCC1
39.0MCCC1, MCCC2
4
Show member pathways
8.5HMGCL, MCCC2, MCCC1
5
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
8.5HMGCL, MCCC2, MCCC1

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

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Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1(E)-2-Methylglutaconic acid249.1MCCC2, MCCC1
23-methylglutaconyl-coa44 2410.1MCCC2, MCCC1
33-methylcrotonyl-coa44 2410.0MCCC2, MCCC1
4Phosphate249.0MCCC2, MCCC1
5Ceramide (d18:1/16:0)248.9MCCC1, MCCC2
6biotin44 24 1110.7MCCC2, MCCC1

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

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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:0067689.1MCCC2, MCCC1
2branched-chain amino acid catabolic processGO:0090839.1MCCC2, MCCC1
3water-soluble vitamin metabolic processGO:0067679.0MCCC1, MCCC2
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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet