MCID: 3MT001
MIFTS: 43

3-Methylcrotonyl-Coa Carboxylase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

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

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 11 48 24 25 54 13
3-Methylcrotonylglycinuria 11 48 25 54
Mcc Deficiency 48 25 54
Methylcrotonyl-Coa Carboxylase Deficiency 25 27
3-Mcc Deficiency 48 25
Bmcc Deficiency 11 25
3mcc 48 25
 
Mccd 48 54
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 25
Deficiency of Methylcrotonoyl-Coa Carboxylase 25
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 68
3mcc Deficiency 11
3-Mcc 25

Characteristics:

Orphanet epidemiological data:

54
3-methylcrotonyl-coa carboxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Germany),1-9/100000 (Taiwan, Province of China); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0050710
Orphanet54 ORPHA6
MESH via Orphanet40 C535308
UMLS via Orphanet69 C0268600
ICD10 via Orphanet31 E71.1

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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NIH Rare Diseases:48 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). Some children with 3-MCC deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening will never experience symptoms of the condition. 3-MCC deficiency may be associated with episodes of metabolic crisis in which affected people experience poor appetite, lack of energy, irritability, weakness, nausea and/or vomiting. If metabolic crises are untreated, the condition can lead to developmental delay, seizures, coma, and even death. 3-MCC deficiency is caused by changes (mutations) in MCCC1 or MCCC2 gene and is inherited in an autosomal recessive manner. Treatment may include a low-leucine diet and appropriate supplements. Last updated: 2/22/2016

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, hypoglycemia and hyperammonemia. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1), and among its related pathways are Diseases of metabolism and Mitochondrial Fatty Acid Beta-Oxidation. Affiliated tissues include cortex, and related mouse phenotype liver/biliary system.

Disease Ontology:11 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.

Genetics Home Reference:25 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.

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 31)
idRelated DiseaseScoreTop Affiliating Genes
1mccc1-related 3-methylcrotonyl-coa carboxylase deficiency12.2
2mccc2-related 3-methylcrotonyl-coa carboxylase deficiency12.2
33-methylcrotonyl-coa carboxylase 1 deficiency10.8
43-methylcrotonyl-coa carboxylase 2 deficiency10.8
5kif14-related meckel syndrome10.2MCCC1, MCCC2
6leukodystrophy10.2
7respiratory failure10.2
8reye syndrome10.2
9status epilepticus10.2
10cerebritis10.2
11cardiomyopathy10.2
12encephalopathy10.2
13hypotonia10.1
14chromosome 4q32.1-q32.2 triplication syndrome10.0ACADM, ACADVL
15was-related disorders10.0ACADM, ACADVL
16acyl-coa dehydrogenase, medium chain, deficiency of10.0ACADM, ACADVL
17atrophic glossitis9.9ACADM, HMGCL
18hyperinsulinemic hypoglycemia, familial, 49.9ACADM, ACADVL
19mitochondrial complex iii deficiency, nuclear type 49.9ACADM, ACADVL
20biotinidase deficiency9.8
21aminoaciduria9.8
22myopathy, myofibrillar, 29.8ACAD8, ACADM
23body dysmorphic disorder9.8ACADM, HMGCL
24fga-related congenital afibrinogenemia9.8ACADM, ACADVL
2518p deletion syndrome9.8ACADM, ACADVL
26thyroid cancer, nonmedullary, 59.8ACAD8, ACADSB
27dyskeratosis congenita, autosomal recessive 19.7ACADM, ACADSB, HMGCL
28maple syrup urine disease, type ii9.6ACADM, ACADVL, HMGCL
29atrial fibrillation, familial, 49.5ACADM, ACADVL
30propionicacidemia9.0ACAD8, ACADM, ACADSB, HMGCL
31fatal infantile encephalocardiomyopathy8.9ACADM, ACADVL, HMGCL, MCCC1, MCCC2

Graphical network of the top 20 diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Symptoms & Phenotypes for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Symptoms:

 11 (show all 5)
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

Human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

 64 54 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypoglycemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001943
3 hyperammonemia64 54 typical (50%) Frequent (79-30%) HP:0001987
4 abnormality of movement64 54 typical (50%) Frequent (79-30%) HP:0100022
5 hypertonia64 occasional (7.5%) HP:0001276
6 respiratory insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0002093
7 abnormality of the cerebral vasculature64 54 occasional (7.5%) Occasional (29-5%) HP:0100659
8 spasticity54 Occasional (29-5%)
9 failure to thrive in infancy54 Frequent (79-30%)
10 organic aciduria54 Very frequent (99-80%)
11 abnormality of leucine metabolism54 Very frequent (99-80%)

UMLS symptoms related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:


lethargy, seizures, vomiting, opisthotonus

MGI Mouse Phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1ACAD8, ACADM, ACADVL, HMGCL

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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 Methylcrotonyl-Coa Carboxylase Deficiency27
2 3-Methylcrotonyl-Coa Carboxylase Deficiency24

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

36
Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 43)
idTitleAuthorsYear
1
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. (26566957)
2016
2
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. (27601257)
2016
3
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? (26660660)
2016
4
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? (25732994)
2015
5
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. (25381946)
2014
6
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
7
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
8
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
9
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
10
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
11
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
12
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
13
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
14
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
15
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
16
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
17
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
18
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
19
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
20
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
21
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
22
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
23
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
24
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
25
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. (14612443)
2004
26
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (15359379)
2004
27
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. (12872837)
2003
28
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
29
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
30
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
31
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
32
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
33
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
34
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
35
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
36
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
37
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
38
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
39
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
40
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
41
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
42
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
43
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MCCC1NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs)deletionPathogenicrs727504001GRCh37Chr 3, 182737990: 182737990
2MCCC1NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs)deletionPathogenicrs727504002GRCh37Chr 3, 182755074: 182755074
3MCCC1NM_020166.4(MCCC1): c.640-1G> ASNVPathogenicrs727504005GRCh37Chr 3, 182788909: 182788909
4MCCC1NM_020166.4(MCCC1): c.137-2A> GSNVPathogenicrs727504006GRCh37Chr 3, 182810335: 182810335
5MCCC1NM_020166.4(MCCC1): c.974T> G (p.Met325Arg)SNVLikely pathogenic, Pathogenicrs119103212GRCh37Chr 3, 182763310: 182763310
6MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)SNVPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
7MCCC1NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter)SNVPathogenicrs544349961GRCh37Chr 3, 182759508: 182759508
8MCCC1NM_020166.4(MCCC1): c.841C> T (p.Arg281Ter)SNVPathogenicrs185741664GRCh38Chr 3, 183057343: 183057343
9MCCC1NM_020166.4(MCCC1): c.1074delG (p.Trp358Cysfs)deletionPathogenicrs398124350GRCh37Chr 3, 182763210: 182763210

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7MCCC1, MCCC2
2
Show member pathways
9.4ACADM, ACADVL
3
Show member pathways
9.4ACADM, ACADVL
49.4ACADM, ACADVL
5
Show member pathways
8.9ACADM, ACADVL, HMGCL
6
Show member pathways
8.9ACADM, ACADSB, ACADVL
7
Show member pathways
7.4ACAD8, ACADM, ACADSB, HMGCL, MCCC1, MCCC2
8
Show member pathways
6.7ACAD8, ACADM, ACADSB, ACADVL, HMGCL, 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
13-methylcrotonyl-CoA carboxylase complex, mitochondrialGO:000216910.4MCCC1, MCCC2
2mitochondrial inner membraneGO:00057439.7ACADVL, HMGCL, MCCC1
3peroxisomeGO:00057779.5ACADM, HMGCL
4mitochondrial matrixGO:00057597.5ACAD8, ACADM, ACADSB, ACADVL, HMGCL, MCCC1
5mitochondrionGO:00057397.3ACAD8, ACADM, ACADSB, ACADVL, HMGCL, MCCC1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:000676810.3MCCC1, MCCC2
2protein heterooligomerizationGO:005129110.1MCCC1, MCCC2
3liver developmentGO:000188910.0ACADM, HMGCL
4fatty acid beta-oxidationGO:000663510.0ACADM, ACADVL
5leucine catabolic processGO:00065529.8HMGCL, MCCC1, MCCC2
6response to starvationGO:00425949.5ACADM, HMGCL
7branched-chain amino acid catabolic processGO:00090839.0ACAD8, ACADSB, MCCC1, MCCC2
8fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335398.6ACAD8, ACADM, ACADSB, ACADVL
9lipid homeostasisGO:00550888.6ACAD8, ACADM, ACADSB, ACADVL

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

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:000448510.0MCCC1, MCCC2
2acyl-CoA dehydrogenase activityGO:00039958.6ACAD8, ACADM, ACADSB, ACADVL
3electron carrier activityGO:00090558.6ACAD8, ACADM, ACADSB, ACADVL
4flavin adenine dinucleotide bindingGO:00506608.4ACAD8, ACADM, ACADSB, ACADVL
5oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528908.1ACAD8, ACADM, ACADSB, ACADVL
6fatty-acyl-CoA bindingGO:00000628.0ACAD8, ACADM, ACADSB, ACADVL, HMGCL

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet