MCID: 2MT003
MIFTS: 31

2-Methylbutyryl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

Name: 2-Methylbutyryl-Coa Dehydrogenase Deficiency 57 53 25 59 75 40 73
Short/branched-Chain Acyl-Coa Dehydrogenase Deficiency 57 25 59 75
2-Methylbutyryl Glycinuria 57 25 75
2-Methylbutyrylglycinuria 57 13 73
Sbcad Deficiency 53 59 37
Sbcadd 57 25 75
Deficiency of 2-Methylbutyryl-Coa Dehydrogenase 29 6
2-Methylbutyric Aciduria 53 59
Developmental Delay Due to 2-Methylbutyryl-Coa Dehydrogenase Deficiency 59
Short/branched-Chain Acyl-Coa Dehydrogenase Deficiency; Sbcadd 57
Short Branched-Chain Acyl-Coa Dehydrogenase Deficiency 53
Short/branched Chain Acyl-Coa Dehydrogenase Deficiency 25
2-Methylbutyryl-Coenzyme a Dehydrogenase Deficiency 25
2-Mbcd Deficiency 25
2-Mbadd 25
2-Mbg 25

Characteristics:

Orphanet epidemiological data:

59
2-methylbutyryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most patients are clinically asymptomatic and show normal development


HPO:

32
2-methylbutyryl-coa dehydrogenase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

NIH Rare Diseases : 53 2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body.  The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent.  Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma.[ This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern. Treatment, when needed, includes a low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs. 

MalaCards based summary : 2-Methylbutyryl-Coa Dehydrogenase Deficiency, also known as short/branched-chain acyl-coa dehydrogenase deficiency, is related to autism and alpha-methylacetoacetic aciduria, and has symptoms including lethargy and seizures. An important gene associated with 2-Methylbutyryl-Coa Dehydrogenase Deficiency is ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain), and among its related pathways/superpathways are Fatty acid degradation and Valine, leucine and isoleucine degradation. Related phenotypes are microcephaly and exotropia

OMIM : 57 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al.., 2008). (610006)

UniProtKB/Swiss-Prot : 75 Short/branched-chain acyl-CoA dehydrogenase deficiency: Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2- methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features.

Genetics Home Reference : 25 Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine.

Related Diseases for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Diseases related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 10.2
2 alpha-methylacetoacetic aciduria 9.0 ACADSB HSD17B10

Symptoms & Phenotypes for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
lethargy
hypotonia
delayed motor development
global developmental delay if untreated

Head And Neck Head:
microcephaly

Respiratory:
apneic episodes in infancy

Laboratory Abnormalities:
increased urinary 2-methylbutyrylglycine
increased plasma 2-methylbutyrylcarnitine
decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

Metabolic Features:
hypothermia
hypoglycemia

Head And Neck Eyes:
strabismus
exotropia

Muscle Soft Tissue:
generalized muscle atrophy


Clinical features from OMIM:

610006

Human phenotypes related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 exotropia 32 HP:0000577
3 seizures 32 HP:0001250
4 muscular hypotonia 32 HP:0001252
5 lethargy 32 HP:0001254
6 global developmental delay 32 HP:0001263
7 motor delay 32 HP:0001270
8 generalized hypotonia 32 HP:0001290
9 hypoglycemia 32 HP:0001943
10 hypothermia 32 HP:0002045
11 generalized amyotrophy 32 HP:0003700
12 apneic episodes in infancy 32 HP:0005949

UMLS symptoms related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency:


lethargy, seizures

Drugs & Therapeutics for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Genetic Tests for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Genetic tests related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of 2-Methylbutyryl-Coa Dehydrogenase 29 ACADSB

Anatomical Context for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Publications for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Articles related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

# Title Authors Year
1
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. ( 17883863 )
2007
2
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. ( 17393751 )
2007
3
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. ( 12837870 )
2003

Variations for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 ACADSB p.Leu255Phe VAR_013010 rs137852649

ClinVar genetic disease variations for 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

6
(show top 50) (show all 223)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADSB NM_001609.3(ACADSB): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs387906409 GRCh37 Chromosome 10, 124812676: 124812676
2 ACADSB NM_001609.3(ACADSB): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs387906409 GRCh38 Chromosome 10, 123053160: 123053160
3 ACADSB NM_001609.3(ACADSB): c.763C> T (p.Leu255Phe) single nucleotide variant Pathogenic rs137852649 GRCh37 Chromosome 10, 124802643: 124802643
4 ACADSB NM_001609.3(ACADSB): c.763C> T (p.Leu255Phe) single nucleotide variant Pathogenic rs137852649 GRCh38 Chromosome 10, 123043127: 123043127
5 ACADSB ACADSB, IVS3DS, A-G, +3 single nucleotide variant Pathogenic
6 ACADSB NM_001609.3(ACADSB): c.303+1G> A single nucleotide variant Pathogenic rs147936696 GRCh37 Chromosome 10, 124797364: 124797364
7 ACADSB NM_001609.3(ACADSB): c.303+1G> A single nucleotide variant Pathogenic rs147936696 GRCh38 Chromosome 10, 123037848: 123037848
8 ACADSB NM_001609.3(ACADSB): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs760791287 GRCh37 Chromosome 10, 124797355: 124797355
9 ACADSB NM_001609.3(ACADSB): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs760791287 GRCh38 Chromosome 10, 123037839: 123037839
10 ACADSB NM_001609.3(ACADSB): c.-107G> A single nucleotide variant Likely benign rs190149746 GRCh37 Chromosome 10, 124768439: 124768439
11 ACADSB NM_001609.3(ACADSB): c.-107G> A single nucleotide variant Likely benign rs190149746 GRCh38 Chromosome 10, 123008923: 123008923
12 ACADSB NM_001609.3(ACADSB): c.95T> A (p.Val32Asp) single nucleotide variant Uncertain significance rs751722805 GRCh38 Chromosome 10, 123034408: 123034408
13 ACADSB NM_001609.3(ACADSB): c.95T> A (p.Val32Asp) single nucleotide variant Uncertain significance rs751722805 GRCh37 Chromosome 10, 124793924: 124793924
14 ACADSB NM_001609.3(ACADSB): c.429C> T (p.Asn143=) single nucleotide variant Uncertain significance rs886046777 GRCh38 Chromosome 10, 123040591: 123040591
15 ACADSB NM_001609.3(ACADSB): c.429C> T (p.Asn143=) single nucleotide variant Uncertain significance rs886046777 GRCh37 Chromosome 10, 124800107: 124800107
16 ACADSB NM_001609.3(ACADSB): c.621G> A (p.Trp207Ter) single nucleotide variant Uncertain significance rs374420253 GRCh37 Chromosome 10, 124800835: 124800835
17 ACADSB NM_001609.3(ACADSB): c.621G> A (p.Trp207Ter) single nucleotide variant Uncertain significance rs374420253 GRCh38 Chromosome 10, 123041319: 123041319
18 ACADSB NM_001609.3(ACADSB): c.786G> A (p.Pro262=) single nucleotide variant Conflicting interpretations of pathogenicity rs76111609 GRCh37 Chromosome 10, 124802666: 124802666
19 ACADSB NM_001609.3(ACADSB): c.786G> A (p.Pro262=) single nucleotide variant Conflicting interpretations of pathogenicity rs76111609 GRCh38 Chromosome 10, 123043150: 123043150
20 ACADSB NM_001609.3(ACADSB): c.795C> T (p.Phe265=) single nucleotide variant Uncertain significance rs150619709 GRCh37 Chromosome 10, 124802675: 124802675
21 ACADSB NM_001609.3(ACADSB): c.795C> T (p.Phe265=) single nucleotide variant Uncertain significance rs150619709 GRCh38 Chromosome 10, 123043159: 123043159
22 ACADSB NM_001609.3(ACADSB): c.*78C> T single nucleotide variant Uncertain significance rs117078411 GRCh37 Chromosome 10, 124813359: 124813359
23 ACADSB NM_001609.3(ACADSB): c.*78C> T single nucleotide variant Uncertain significance rs117078411 GRCh38 Chromosome 10, 123053843: 123053843
24 ACADSB NM_001609.3(ACADSB): c.*323G> A single nucleotide variant Uncertain significance rs886046785 GRCh37 Chromosome 10, 124813604: 124813604
25 ACADSB NM_001609.3(ACADSB): c.*323G> A single nucleotide variant Uncertain significance rs886046785 GRCh38 Chromosome 10, 123054088: 123054088
26 ACADSB NM_001609.3(ACADSB): c.*358T> C single nucleotide variant Uncertain significance rs184796725 GRCh37 Chromosome 10, 124813639: 124813639
27 ACADSB NM_001609.3(ACADSB): c.*358T> C single nucleotide variant Uncertain significance rs184796725 GRCh38 Chromosome 10, 123054123: 123054123
28 ACADSB NM_001609.3(ACADSB): c.*973A> G single nucleotide variant Uncertain significance rs886046786 GRCh38 Chromosome 10, 123054738: 123054738
29 ACADSB NM_001609.3(ACADSB): c.*973A> G single nucleotide variant Uncertain significance rs886046786 GRCh37 Chromosome 10, 124814254: 124814254
30 ACADSB NM_001609.3(ACADSB): c.*1195C> A single nucleotide variant Uncertain significance rs886046787 GRCh37 Chromosome 10, 124814476: 124814476
31 ACADSB NM_001609.3(ACADSB): c.*1195C> A single nucleotide variant Uncertain significance rs886046787 GRCh38 Chromosome 10, 123054960: 123054960
32 ACADSB NM_001609.3(ACADSB): c.*1200A> T single nucleotide variant Likely benign rs11248371 GRCh38 Chromosome 10, 123054965: 123054965
33 ACADSB NM_001609.3(ACADSB): c.*1200A> T single nucleotide variant Likely benign rs11248371 GRCh37 Chromosome 10, 124814481: 124814481
34 ACADSB NM_001609.3(ACADSB): c.*1868C> G single nucleotide variant Benign rs10902868 GRCh37 Chromosome 10, 124815149: 124815149
35 ACADSB NM_001609.3(ACADSB): c.*1868C> G single nucleotide variant Benign rs10902868 GRCh38 Chromosome 10, 123055633: 123055633
36 ACADSB NM_001609.3(ACADSB): c.*2174A> G single nucleotide variant Uncertain significance rs577027224 GRCh37 Chromosome 10, 124815455: 124815455
37 ACADSB NM_001609.3(ACADSB): c.*2174A> G single nucleotide variant Uncertain significance rs577027224 GRCh38 Chromosome 10, 123055939: 123055939
38 ACADSB NM_001609.3(ACADSB): c.*2224A> C single nucleotide variant Uncertain significance rs192771453 GRCh37 Chromosome 10, 124815505: 124815505
39 ACADSB NM_001609.3(ACADSB): c.*2224A> C single nucleotide variant Uncertain significance rs192771453 GRCh38 Chromosome 10, 123055989: 123055989
40 ACADSB NM_001609.3(ACADSB): c.*2803T> C single nucleotide variant Uncertain significance rs187253795 GRCh37 Chromosome 10, 124816084: 124816084
41 ACADSB NM_001609.3(ACADSB): c.*2803T> C single nucleotide variant Uncertain significance rs187253795 GRCh38 Chromosome 10, 123056568: 123056568
42 ACADSB NM_001609.3(ACADSB): c.*3390C> A single nucleotide variant Uncertain significance rs751677400 GRCh37 Chromosome 10, 124816671: 124816671
43 ACADSB NM_001609.3(ACADSB): c.*3390C> A single nucleotide variant Uncertain significance rs751677400 GRCh38 Chromosome 10, 123057155: 123057155
44 ACADSB NM_001609.3(ACADSB): c.*3431C> G single nucleotide variant Uncertain significance rs886046800 GRCh37 Chromosome 10, 124816712: 124816712
45 ACADSB NM_001609.3(ACADSB): c.*3431C> G single nucleotide variant Uncertain significance rs886046800 GRCh38 Chromosome 10, 123057196: 123057196
46 ACADSB NM_001609.3(ACADSB): c.*3819A> G single nucleotide variant Benign rs3980942 GRCh37 Chromosome 10, 124817100: 124817100
47 ACADSB NM_001609.3(ACADSB): c.*3819A> G single nucleotide variant Benign rs3980942 GRCh38 Chromosome 10, 123057584: 123057584
48 ACADSB NM_001609.3(ACADSB): c.*3941C> A single nucleotide variant Uncertain significance rs886046804 GRCh37 Chromosome 10, 124817222: 124817222
49 ACADSB NM_001609.3(ACADSB): c.*3941C> A single nucleotide variant Uncertain significance rs886046804 GRCh38 Chromosome 10, 123057706: 123057706
50 ACADSB NM_001609.3(ACADSB): c.*4426T> C single nucleotide variant Benign rs7732 GRCh38 Chromosome 10, 123058191: 123058191

Expression for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 2-Methylbutyryl-Coa Dehydrogenase Deficiency.

Pathways for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Pathways related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Valine, leucine and isoleucine degradation hsa00280
3 Fatty acid metabolism hsa01212

Pathways related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 ACADSB HSD17B10
2 9.74 ACADSB HSD17B10

GO Terms for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Cellular components related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ACADSB HSD17B10

Biological processes related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.16 ACADSB HSD17B10
2 lipid metabolic process GO:0006629 8.96 ACADSB HSD17B10
3 branched-chain amino acid catabolic process GO:0009083 8.62 ACADSB HSD17B10

Molecular functions related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 ACADSB HSD17B10

Sources for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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