MCID: 3MT001
MIFTS: 49

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, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

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

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 11 46 23 24 13 52
3-Methylcrotonylglycinuria 11 46 24 52
Mcc Deficiency 46 24 52
Methylcrotonyl-Coa Carboxylase Deficiency 24 25
3-Mcc Deficiency 46 24
Bmcc Deficiency 11 24
3mcc 46 24
 
Mccd 46 52
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 46
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 24
Deficiency of Methylcrotonoyl-Coa Carboxylase 24
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 66
3mcc Deficiency 11
3-Mcc 24

Characteristics:

Orphanet epidemiological data:

52
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
Orphanet52 ORPHA6
ICD10 via Orphanet29 E71.1
MESH via Orphanet38 C535308
UMLS via Orphanet67 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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NIH Rare Diseases:46 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 Defects in biotin (Btn) metabolism and Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA. Affiliated tissues include cortex, and related mouse phenotypes are liver/biliary system and renal/urinary 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:24 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1mccc1-related 3-methylcrotonyl-coa carboxylase deficiency12.4
2mccc2-related 3-methylcrotonyl-coa carboxylase deficiency12.4
33-methylcrotonyl-coa carboxylase 1 deficiency10.9
43-methylcrotonyl-coa carboxylase 2 deficiency10.9
5was-related disorders10.6ACADM, ACADVL
6kif14-related meckel syndrome10.6MCCC1, MCCC2
7deafness, autosomal dominant 2510.6ACADM, ACADS
8mitochondrial complex iii deficiency, nuclear type 410.5ACADM, ACADVL
9atrophic glossitis10.4ACADM, HMGCL
10acyl-coa dehydrogenase, medium chain, deficiency of10.4ACADM, ACADS, ACADVL
11hyperinsulinemic hypoglycemia, familial, 410.4ACADM, ACADVL, HADH
12wagr syndrome10.4ACADVL, SLC25A13
13dyskeratosis congenita, autosomal recessive 110.4ACADM, ACADS, HMGCL
1418p deletion syndrome10.3ACADM, ACADVL, HADH
15leukodystrophy10.3
16respiratory failure10.3
17reye syndrome10.3
18status epilepticus10.3
19cerebritis10.3
20cardiomyopathy10.3
21encephalopathy10.3
22body dysmorphic disorder10.3ACADM, HMGCL
23leukemia, chronic lymphocytic 310.3ACADVL, SLC25A13
24hypotonia10.3
25fga-related congenital afibrinogenemia10.1ACADM, ACADS, ACADVL, SLC25A13
26primary cerebellar degeneration10.1MMD, SLC6A18
27atrial fibrillation, familial, 410.1ACADM, ACADVL, HADH, SLC25A13
28biotinidase deficiency10.0
29aminoaciduria10.0
30glioma susceptibility 49.9HPD, SLC25A13
31waardenburg's syndrome9.7ACADM, MMD, PAH, SLC25A13
32maple syrup urine disease, type ii9.6ACADM, ACADVL, HMGCL, MMD, PAH
33yellow fever9.2CGB3, CGB7, CGB8
34osteoclast-like giant cell neoplasm of the pancreas9.2CGB3, CGB7, CGB8
35fatal infantile encephalocardiomyopathy4.7ACADM, ACADS, ACADVL, CGB3, CGB7, CGB8

Graphical network of the top 20 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:

 11 52 (show all 14)
  • m
  • f
  • r
  • l
  • muscular hypotonia
  • spasticity
  • failure to thrive in infancy
  • hypoglycemia
  • hyperammonemia
  • organic aciduria
  • respiratory insufficiency
  • abnormality of leucine metabolism
  • abnormality of movement
  • abnormality of the cerebral vasculature

HPO human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 7)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 hypoglycemia hallmark (90%) HP:0001943
3 hyperammonemia typical (50%) HP:0001987
4 abnormality of movement typical (50%) HP:0100022
5 hypertonia occasional (7.5%) HP:0001276
6 respiratory insufficiency occasional (7.5%) HP:0002093
7 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659

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


lethargy, seizures, vomiting, opisthotonus

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 Deficiency25
2 3-Methylcrotonyl-Coa Carboxylase Deficiency23

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

34
Cortex

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

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MGI Mouse Phenotypes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3ACADM, ACADS, ACADVL, HMGCL, NRAS, SLC25A13
2MP:00053678.9ACADS, HADH, HPD, PAH, SLC25A13, SLC6A18
3MP:00053767.4ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

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> Asingle nucleotide variantPathogenicrs727504005GRCh37Chr 3, 182788909: 182788909
4MCCC1NM_020166.4(MCCC1): c.137-2A> Gsingle nucleotide variantPathogenicrs727504006GRCh37Chr 3, 182810335: 182810335
5MCCC1NM_020166.4(MCCC1): c.974T> G (p.Met325Arg)single nucleotide variantPathogenicrs119103212GRCh37Chr 3, 182763310: 182763310
6MCCC1NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser)single nucleotide variantPathogenicrs119103213GRCh37Chr 3, 182759467: 182759467
7MCCC1NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter)single nucleotide variantPathogenicrs544349961GRCh37Chr 3, 182759508: 182759508
8MCCC1NM_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:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.1MCCC1, MCCC2
2
Show member pathways
10.0ACADM, HADH
39.7ACADM, ACADVL, HADH
4
Show member pathways
9.7ACADS, HADH, HMGCL
5
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
6
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
7
Show member pathways
9.4ACADM, ACADS, ACADVL, HADH
8
Show member pathways
9.2ACADM, ACADS, ACADVL, HADH, HMGCL
9
Show member pathways
9.0ACADM, ACADS, HADH, HMGCL, MCCC1, MCCC2
10
Show member pathways
8.5CGB3, CGB7, CGB8
11
Show member pathways
7.5ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

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:000216910.8MCCC1, MCCC2
2mitochondrial inner membraneGO:00057439.1ACADVL, HADH, HMGCL, MCCC1, SLC25A13
3mitochondrial matrixGO:00057599.0ACADM, ACADS, ACADVL, HADH, HMGCL, MCCC1
4mitochondrionGO:00057398.4ACADM, ACADS, ACADVL, HADH, HMGCL, MCCC1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:000676810.4MCCC1, MCCC2
2fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.2ACADM, ACADS, ACADVL
3leucine catabolic processGO:000655210.2HMGCL, MCCC1, MCCC2
4L-phenylalanine catabolic processGO:000655910.2HPD, PAH
5lipid homeostasisGO:005508810.0ACADM, ACADS, ACADVL
6branched-chain amino acid catabolic processGO:00090839.8MCCC1, MCCC2
7response to starvationGO:00425949.7ACADM, ACADS, HMGCL
8fatty acid beta-oxidationGO:00066359.5ACADM, ACADS, ACADVL, HADH

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

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:000448510.6MCCC1, MCCC2
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.5ACADM, ACADVL
3acyl-CoA dehydrogenase activityGO:000399510.3ACADM, ACADS, ACADVL
4fatty-acyl-CoA bindingGO:00000629.9ACADM, ACADS, ACADVL, HMGCL
5flavin adenine dinucleotide bindingGO:00506609.7ACADM, ACADS, ACADVL
6electron carrier activityGO:00090559.4ACADM, ACADS, ACADVL

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet