3MCC
MCID: 3MT001
MIFTS: 44

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

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 12 50 24 25 56 14
3-Methylcrotonylglycinuria 12 50 25 56
Mcc Deficiency 50 25 56
Methylcrotonyl-Coa Carboxylase Deficiency 25 29
3-Mcc Deficiency 50 25
Bmcc Deficiency 12 25
3mcc 50 25
Mccd 50 56
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 50
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 25
Deficiency of Methylcrotonoyl-Coa Carboxylase 25
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 69
3mcc Deficiency 12
3-Mcc 25

Characteristics:

Orphanet epidemiological data:

56
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:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050710
Orphanet 56 ORPHA6
MESH via Orphanet 43 C535308
UMLS via Orphanet 70 C0268600
ICD10 via Orphanet 34 E71.1

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

NIH Rare Diseases : 50 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 (weak muscle tone), muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include cortex, and related phenotype is liver/biliary system.

Disease Ontology : 12 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

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 mccc1-related 3-methylcrotonyl-coa carboxylase deficiency 12.2
2 mccc2-related 3-methylcrotonyl-coa carboxylase deficiency 12.2
3 3-methylcrotonyl-coa carboxylase 1 deficiency 10.8
4 3-methylcrotonyl-coa carboxylase 2 deficiency 10.8
5 encephalopathy 10.2
6 leukodystrophy 10.2
7 respiratory failure 10.2
8 reye syndrome 10.2
9 status epilepticus 10.2
10 cerebritis 10.2
11 cardiomyopathy 10.2
12 langer mesomelic dwarfism 10.1 MCCC1 MCCC2
13 hypotonia 10.1
14 cystinosis, ocular nonnephropathic 10.0 ACADVL HMGCL
15 bardet-biedl syndrome 18 10.0 ACAD8 ACADSB
16 cataract 16, multiple types 10.0 ACAD8 ACADVL
17 maple syrup urine disease, mild variant 9.9 ACADM ACADVL
18 malignant cardiac peripheral nerve sheath neoplasm 9.9 ACADM HMGCL
19 fibular hypoplasia 9.9 ACADM ACADVL
20 hyperekplexia 2, autosomal recessive 9.9 ACADM HMGCL
21 gum cancer 9.8 ACADM MCCC1 MCCC2
22 pancreatic cancer 1 9.8 ACADM ACADVL
23 biotinidase deficiency 9.8
24 aminoaciduria 9.8
25 atrial fibrillation, familial, 4 9.8 ACADM ACADVL
26 hermansky-pudlak syndrome 9 9.8 ACADM ACADSB HMGCL
27 obesity, morbid, due to leptin receptor deficiency 9.8 ACADM ACADVL HMGCL
28 pain disorder 9.7 ACADM HMGCL
29 mitochondrial phosphate carrier deficiency 9.7 ACAD8 ACADM ACADSB
30 acute insulin response 9.7 ACAD8 ACADM ACADVL
31 retinitis pigmentosa 4, autosomal dominant or recessive 9.3 ACAD8 ACADM ACADSB ACADVL HMGCL
32 vitamin metabolic disorder 9.0 ACAD8 ACADM ACADSB ACADVL HMGCL MCCC1

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

Symptoms:

12
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

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

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
2 spasticity 56 32 Occasional (29-5%) HP:0001257
3 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
4 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
5 abnormality of movement 56 32 Frequent (79-30%) HP:0100022
6 abnormality of the cerebral vasculature 56 32 Occasional (29-5%) HP:0100659
7 failure to thrive in infancy 56 32 Frequent (79-30%) HP:0001531
8 hyperammonemia 56 32 Frequent (79-30%) HP:0001987
9 organic aciduria 56 32 Very frequent (99-80%) HP:0001992
10 abnormality of leucine metabolism 56 32 Very frequent (99-80%) HP:0004357

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


lethargy, seizures, vomiting, opisthotonus

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 ACAD8 ACADM ACADVL HMGCL

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

id Genetic test Affiliating Genes
1 Methylcrotonyl-Coa Carboxylase Deficiency 29
2 3-Methylcrotonyl-Coa Carboxylase Deficiency 24

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

39
Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 43)
id Title Authors Year
1
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. ( 27601257 )
2016
2
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. ( 26566957 )
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
Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. ( 22150417 )
2012
9
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. ( 22264772 )
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
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
14
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
2008
15
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
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
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. ( 17142544 )
2006
19
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
2006
20
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
21
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. ( 16010683 )
2005
22
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
2005
23
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. ( 16435207 )
2005
24
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. ( 15868465 )
2005
25
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. ( 15359379 )
2004
26
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. ( 14612443 )
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
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. ( 11406611 )
2001
30
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. ( 11181649 )
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
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. ( 9584271 )
1998
34
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. ( 9537490 )
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
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. ( 8598640 )
1995
38
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
1995
39
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. ( 8598650 )
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

Expression for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

Pathways for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 ACAD8 ACADM ACADSB ACADVL HMGCL MCCC1
2
Show member pathways
12.43 ACADM ACADVL HMGCL
3
Show member pathways
11.44 MCCC1 MCCC2
4
Show member pathways
11.3 ACADM ACADSB ACADVL
5
Show member pathways
11.25 ACADM ACADVL
6
Show member pathways
11.18 ACAD8 ACADM ACADSB HMGCL MCCC1 MCCC2
7
Show member pathways
11.13 ACADM ACADVL
8 11.09 ACADM HMGCL MCCC1
9 11.01 ACADM ACADVL
10
Show member pathways
10.34 MCCC1 MCCC2

GO Terms for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.5 ACADVL HMGCL MCCC1
2 mitochondrion GO:0005739 9.5 ACAD8 ACADM ACADSB ACADVL HMGCL MCCC1
3 methylcrotonoyl-CoA carboxylase complex GO:1905202 9.26 MCCC1 MCCC2
4 mitochondrial matrix GO:0005759 9.17 ACAD8 ACADM ACADSB ACADVL HMGCL MCCC1
5 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.16 MCCC1 MCCC2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 ACAD8 ACADM ACADSB ACADVL
2 metabolic process GO:0008152 9.67 ACAD8 ACADM ACADSB ACADVL
3 fatty acid metabolic process GO:0006631 9.58 ACADM ACADSB ACADVL
4 lipid metabolic process GO:0006629 9.55 ACAD8 ACADM ACADSB ACADVL HMGCL
5 protein heterooligomerization GO:0051291 9.51 MCCC1 MCCC2
6 fatty acid beta-oxidation GO:0006635 9.49 ACADM ACADVL
7 response to cold GO:0009409 9.48 ACADM ACADVL
8 response to starvation GO:0042594 9.46 ACADM HMGCL
9 biotin metabolic process GO:0006768 9.32 MCCC1 MCCC2
10 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADM ACADVL
11 leucine catabolic process GO:0006552 9.13 HMGCL MCCC1 MCCC2
12 branched-chain amino acid catabolic process GO:0009083 8.92 ACAD8 ACADSB MCCC1 MCCC2

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 ACAD8 ACADM ACADSB ACADVL
2 flavin adenine dinucleotide binding GO:0050660 9.46 ACAD8 ACADM ACADSB ACADVL
3 methylcrotonoyl-CoA carboxylase activity GO:0004485 9.26 MCCC1 MCCC2
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACAD8 ACADM ACADSB ACADVL
5 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACAD8 ACADM ACADSB ACADVL

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....