MCID: 3MT001
MIFTS: 37

3-Methylcrotonyl-Coa Carboxylase Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Disease Ontology:9 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 mccc1-related 3-methylcrotonyl-coa carboxylase deficiency and mccc2-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.

Genetics Home Reference:21 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.

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 9 41 21 11
3-Methylcrotonylglycinuria 9 41 21
Methylcrotonyl-Coa Carboxylase Deficiency 21 22
3-Mcc Deficiency 41 21
Bmcc Deficiency 9 21
Mcc Deficiency 41 21
3mcc 41 21
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 41
 
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 21
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 60
Deficiency of Methylcrotonoyl-Coa Carboxylase 21
3 Methylcrotonyl-Coa Carboxylase Deficiency 20
3mcc Deficiency 9
3-Mcc 21
Mccd 41


Classifications:

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


External Ids:

Disease Ontology9 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 Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1mccc1-related 3-methylcrotonyl-coa carboxylase deficiency10.7
2mccc2-related 3-methylcrotonyl-coa carboxylase deficiency10.7
33-methylcrotonyl-coa carboxylase 1 deficiency10.6
4hypotonia10.5
5status epilepticus10.5
6cerebritis10.5
7reye syndrome10.5
8leukodystrophy10.5
9respiratory failure10.5
10organic acidemia10.2MCCC1
11biotinidase deficiency10.1
12aminoaciduria10.1

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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Symptoms:

 9
  • 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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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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Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

id Genetic test Affiliating Genes
1 3-Methylcrotonyl-Coa Carboxylase Deficiency20
2 Methylcrotonyl-Coa Carboxylase Deficiency22

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

31
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
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? (25732994)
2015
2
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. (25381946)
2014
3
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
4
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
5
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
6
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
7
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
8
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
9
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
10
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
11
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
12
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
13
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
14
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
15
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
16
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
17
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
18
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
19
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
20
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
21
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
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 Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.0MCCC2, MCCC1
2
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.0MCCC2, MCCC1
39.0MCCC1, MCCC2
4
Show member pathways
8.5HMGCL, MCCC2, MCCC1
5
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
8.5HMGCL, MCCC2, MCCC1

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

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Sources:
24HMDB, 43Novoseek, 12DrugBank
See all sources

Compounds related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1(E)-2-Methylglutaconic acid249.1MCCC2, MCCC1
23-methylglutaconyl-coa43 2410.1MCCC2, MCCC1
33-methylcrotonyl-coa43 2410.0MCCC2, MCCC1
4Phosphate249.0MCCC2, MCCC1
5Ceramide (d18:1/16:0)248.9MCCC1, MCCC2
6biotin43 24 1210.7MCCC2, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.3HMGCL, MCCC1
2mitochondrial matrixGO:00057598.4HMGCL, MCCC2, MCCC1
3mitochondrionGO:00057398.2HMGCL, MCCC2, MCCC1

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:00067689.1MCCC1, MCCC2
2branched-chain amino acid catabolic processGO:00090839.1MCCC1, MCCC2
3water-soluble vitamin metabolic processGO:00067679.0MCCC2, MCCC1
4cellular nitrogen compound metabolic processGO:00346419.0MCCC2, MCCC1
5vitamin metabolic processGO:00067668.9MCCC2, MCCC1
6leucine catabolic processGO:00065528.7HMGCL, MCCC2, MCCC1
7small molecule metabolic processGO:00442818.2HMGCL, MCCC2, MCCC1

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:00044859.0MCCC2, MCCC1

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet