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

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 10 45 22 23 12 51
3-Methylcrotonylglycinuria 10 45 23 51
Mcc Deficiency 45 23 51
Methylcrotonyl-Coa Carboxylase Deficiency 23 24
3-Mcc Deficiency 45 23
Bmcc Deficiency 10 23
3mcc 45 23
 
Mccd 45 51
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 45
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 23
Deficiency of Methylcrotonoyl-Coa Carboxylase 23
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 65
3mcc Deficiency 10
3-Mcc 23

Characteristics:

Orphanet epidemiological data:

51
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: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050710
Orphanet51 6
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C535308
UMLS via Orphanet66 C0268600
UMLS65 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section
NIH Rare Diseases:45 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 biotinidase deficiency and mccc1-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 Defective HLCS causes multiple carboxylase deficiency and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include bone, lung and brain, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 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:23 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

About this section

Diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency30.8ACADM, MCCC2
2mccc1-related 3-methylcrotonyl-coa carboxylase deficiency12.4
3mccc2-related 3-methylcrotonyl-coa carboxylase deficiency12.4
43-methylcrotonyl-coa carboxylase 1 deficiency10.9
53-methylcrotonyl-coa carboxylase 2 deficiency10.9
6kiaa2022-related x-linked mental retardation10.6MCCC1, MCCC2
7was-related disorders10.6ACADM, ACADVL
8deafness, autosomal dominant 2510.6ACADM, ACADS
9myopathy, myofibrillar, 210.6ACADS, HMGCL
10hyperinsulinemic hypoglycemia, familial, 410.6ACADVL, HADH
11external pathological resorption10.5ACADM, HMGCL
12lichen nitidus10.5ACADM, MCCC2
13dyskeratosis congenita, autosomal recessive 110.5ACADM, ACADS, HMGCL
14acyl-coa dehydrogenase, medium chain, deficiency of10.4ACADM, ACADS, ACADVL
15survival motor neuron spinal muscular atrophy10.4ACADM, ACADS, HMGCL
16propionicacidemia10.4ACADM, HMGCL, SLC25A13
17vocal cord scarring10.4ACADS, ACADVL, SLC25A13
18pseudotyphus of california10.3PAH, PTS
19leukodystrophy10.3
20respiratory failure10.3
21reye syndrome10.3
22status epilepticus10.3
23cerebritis10.3
24cardiomyopathy10.3
25encephalopathy10.3
26usher syndrome, type 1g10.3ACADM, GALT, SLC25A13
27hypotonia10.3
28chromosome 4q32.1-q32.2 triplication syndrome10.2ACADM, ACADS, ACADVL, HMGCL
29mixed cerebral palsy10.2PTS, SIX3
30tyrosinemia10.2MMD, SLC6A18
31leukemia, chronic lymphocytic 310.2ACADS, SLC25A13
32fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form10.1ACADM, ACADS, ACADVL, SLC25A13
33noonan syndrome 110.1ACADM, PAH, PTS
34bone diseases10.1PAH, PTS
35transmitted_by10.1ACADM, ACADVL, HADH
36aminoaciduria10.0
37gastric small cell carcinoma9.9GALT, MMD, PAH
38maple syrup urine disease, type ii9.9ACADM, ACADS, ACADVL, HMGCL, PAH
39mast-cell leukemia9.8ACADM, MMD, PAH, SLC25A13
40benign familial infantile epilepsy9.8MMD, SLC6A18
41geroderma osteodysplastica9.7CGB3, CGB7
42long qt syndrome 69.5ACADM, ACADVL, HADH, HMGCL, PTS, SLC25A13
43cervical incompetence9.3CGB3, CGB7, CGB8
44colloid carcinoma of the pancreas9.3CGB3, CGB7, CGB8
45aceruloplasminemia5.1ACADM, 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

About this section

Symptoms:

 51 10 (show all 15)
  • hypoglycemia
  • hypotonia
  • metabolic anomalies
  • organic acid metabolism anomalies
  • movement disorder
  • hyperammonemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cerebral vascular anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

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:


opisthotonus, vomiting, seizures, lethargy

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section

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

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

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section

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

33
Bone, Lung, Brain, Neutrophil, Endothelial, T cells, Prostate

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 42)
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: to screen or not to screen? (26660660)
2016
3
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? (25732994)
2015
4
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. (25381946)
2014
5
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. (23053545)
2013
6
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (24103308)
2013
7
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (22264772)
2012
8
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (22642865)
2012
9
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (22150417)
2012
10
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (19339287)
2009
11
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (19706617)
2009
12
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. (18633047)
2008
13
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. (17869468)
2008
14
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. (18155630)
2008
15
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (17968484)
2007
16
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. (17275669)
2007
17
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. (16835865)
2006
18
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. (17142544)
2006
19
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (16680273)
2006
20
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. (15877210)
2005
21
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. (16435207)
2005
22
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (16010683)
2005
23
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. (15868465)
2005
24
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. (14612443)
2004
25
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (15359379)
2004
26
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. (12872837)
2003
27
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. (11893004)
2002
28
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (11406611)
2001
29
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (11181649)
2001
30
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. (11131348)
2000
31
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. (10485305)
1999
32
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. (9537490)
1998
33
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. (9584271)
1998
34
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. (9187484)
1997
35
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. (8831079)
1996
36
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. (7474896)
1995
37
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. (8598650)
1995
38
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. (8598640)
1995
39
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. (1779635)
1991
40
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. (2515383)
1989
41
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. (6441868)
1984
42
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (7128647)
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section

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

About this section
Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase Deficiency.

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

About this section

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
10.0MCCC1, MCCC2
2
Show member pathways
9.9ACADM, 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
7.2ACADM, ACADS, ACADVL, GALT, HADH, HMGCL

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.6ACADS, ACADVL
2response to starvationGO:004259410.3ACADM, HMGCL
3oxidation-reduction processGO:00551149.0ACADM, ACADS, ACADVL, PAH
4peptide hormone processingGO:00164868.9CGB3, CGB7, CGB8
5cell-cell signalingGO:00072678.8CGB3, CGB7, CGB8
6cellular protein metabolic processGO:00442678.3ACADVL, CGB3, CGB7, CGB8

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

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:000006210.2ACADS, ACADVL
2electron carrier activityGO:000905510.0ACADM, ACADVL
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.7ACADM, ACADS

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet