MCID: 3MT001
MIFTS: 42

3-Methylcrotonyl-Coa Carboxylase Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

MalaCards integrated aliases for 3-Methylcrotonyl-Coa Carboxylase Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase Deficiency 12 49 24 55 14
3-Methylcrotonylglycinuria 12 49 24 55 36
Mcc Deficiency 49 24 55
Methylcrotonyl-Coa Carboxylase Deficiency 24 28
3-Mcc Deficiency 49 24
Bmcc Deficiency 12 24
3mcc 49 24
Mccd 49 55
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 49
3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency 24
Deficiency of Methylcrotonoyl-Coa Carboxylase 24
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 69
3-Methyl Crotonyl-Coa Carboxylase Deficiency 72
3mcc Deficiency 12
3-Mcc 24

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050710
Orphanet 55 ORPHA6
MESH via Orphanet 42 C535308
UMLS via Orphanet 70 C0268600
ICD10 via Orphanet 33 E71.1
KEGG 36 H00181
UMLS 69 C0268600

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

NIH Rare Diseases : 49 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 3-methylcrotonyl-coa carboxylase 1 deficiency and 3-methylcrotonyl-coa carboxylase 2 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 Valine, leucine and isoleucine degradation and Metabolism. Affiliated tissues include cortex.

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 : 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.

Wikipedia : 72 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria... more...

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 spasticity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001257
3 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0001531
4 hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001943
5 hyperammonemia 55 31 frequent (33%) Frequent (79-30%) HP:0001987
6 organic aciduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001992
7 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
8 abnormality of leucine metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0004357
9 abnormality of movement 55 31 frequent (33%) Frequent (79-30%) HP:0100022
10 abnormality of the cerebral vasculature 55 31 occasional (7.5%) Occasional (29-5%) HP:0100659

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


opisthotonus, vomiting, seizures, lethargy

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:

# Genetic test Affiliating Genes
1 Methylcrotonyl-Coa Carboxylase Deficiency 28

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

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

38
Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:

(show all 43)
# 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
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
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. ( 22264772 )
2012
11
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. ( 19706617 )
2009
12
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. ( 19339287 )
2009
13
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
14
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
2008
15
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
2008
16
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. ( 17275669 )
2007
17
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. ( 17968484 )
2007
18
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
19
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. ( 17142544 )
2006
20
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
2006
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
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
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
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
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
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. ( 8598650 )
1995
38
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
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

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 KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
2
Show member pathways
12.11 MCCC1 MCCC2 MUT
3
Show member pathways
11.31 MCCC1 MCCC2 MUT
4
Show member pathways
11.17 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
5 11.09 HMGCL MCCC1 MUT
6
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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
2 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 9.16 MCCC1 MCCC2
3 mitochondrial matrix GO:0005759 9.1 ACAD8 ACADSB HMGCL MCCC1 MCCC2 MUT
4 methylcrotonoyl-CoA carboxylase complex GO:1905202 8.96 MCCC1 MCCC2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.54 ACAD8 ACADSB HMGCL
2 metabolic process GO:0008152 9.5 ACAD8 ACADSB MUT
3 protein heterooligomerization GO:0051291 9.26 MCCC1 MCCC2
4 biotin metabolic process GO:0006768 9.16 MCCC1 MCCC2
5 leucine catabolic process GO:0006552 9.13 HMGCL MCCC1 MCCC2
6 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:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.26 ACAD8 ACADSB
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 ACAD8 ACADSB
3 acyl-CoA dehydrogenase activity GO:0003995 8.96 ACAD8 ACADSB
4 methylcrotonoyl-CoA carboxylase activity GO:0004485 8.62 MCCC1 MCCC2

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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