MCID: 2MT003

2-Methylbutyryl-Coa Dehydrogenase Deficiency (SBCADD)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 20 43 58 72 39 70
Short/branched-Chain Acyl-Coa Dehydrogenase Deficiency 57 43 58 72
2-Methylbutyryl Glycinuria 57 43 72
2-Methylbutyrylglycinuria 57 13 70
Sbcad Deficiency 20 58 36
Sbcadd 57 43 72
Deficiency of 2-Methylbutyryl-Coa Dehydrogenase 29 6
2-Methylbutyric Aciduria 20 58
Developmental Delay Due to 2-Methylbutyryl-Coa Dehydrogenase Deficiency 58
Short/branched-Chain Acyl-Coa Dehydrogenase Deficiency; Sbcadd 57
Short Branched-Chain Acyl-Coa Dehydrogenase Deficiency 20
Short/branched Chain Acyl-Coa Dehydrogenase Deficiency 43
2-Methylbutyryl-Coenzyme a Dehydrogenase Deficiency 43
2-Mbcd Deficiency 43
2-Mbadd 43
2-Mbg 43


Orphanet epidemiological data:

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


57 (Updated 05-Apr-2021)
autosomal recessive

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


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


Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism

External Ids:

OMIM® 57 610006
KEGG 36 H00375
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C1864912
Orphanet 58 ORPHA79157
MedGen 41 C1864912
UMLS 70 C1864912 C2198591

Summaries for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

MedlinePlus Genetics : 43 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.Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria).Most people with SBCAD deficiency have no health problems related to the disorder. A small percentage of affected individuals develop signs and symptoms of the condition, which can begin soon after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and irritability. These symptoms sometimes progress to serious health problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision impairment, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking.It is unclear why some people with SBCAD deficiency develop health problems and others do not. Doctors suggest that in some cases, signs and symptoms may be triggered by infections, prolonged periods without food (fasting), or an increased amount of protein-rich foods in the diet.

MalaCards based summary : 2-Methylbutyryl-Coa Dehydrogenase Deficiency, also known as short/branched-chain acyl-coa dehydrogenase deficiency, is related to hsd10 mitochondrial disease and microcephaly, and has symptoms including seizures and lethargy. 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 hypothermia and global developmental delay

GARD : 20 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.

OMIM® : 57 2-Methylbutyryl-CoA dehydrogenase 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) (Updated 05-Apr-2021)

KEGG : 36 Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA as part of the degradation of isoleucine in mitochondria.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 2-Methylbutyryl-CoA dehydrogenase deficiency, is an autosomal recessive metabolic disorder. It causes... more...

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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 hsd10 mitochondrial disease 11.6
2 microcephaly 10.3
3 autism 10.3
4 isovaleric acidemia 10.3
5 yemenite deaf-blind hypopigmentation syndrome 10.3
6 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
7 dyskinetic cerebral palsy 10.3
8 autosomal recessive disease 10.3
9 cortical blindness 10.3
10 cerebral palsy 10.3
11 inherited metabolic disorder 10.3
12 hypotonia 10.3
13 acyl-coa dehydrogenase deficiency 10.3
14 tiglic acidemia 10.0
15 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.0

Graphical network of the top 20 diseases related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency:

Diseases related to 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypothermia 31 HP:0002045
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 hypoglycemia 31 HP:0001943
5 motor delay 31 HP:0001270
6 lethargy 31 HP:0001254
7 generalized hypotonia 31 HP:0001290
8 generalized amyotrophy 31 HP:0003700
9 exotropia 31 HP:0000577
10 apneic episodes in infancy 31 HP:0005949
11 seizure 31 HP:0001250
12 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
delayed motor development
global developmental delay if untreated

Head And Neck Head:

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:

Head And Neck Eyes:

Muscle Soft Tissue:
generalized muscle atrophy

Clinical features from OMIM®:

610006 (Updated 05-Apr-2021)

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

seizures; lethargy

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:

(show all 17)
# Title Authors PMID Year
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 61 6 57
20547083 2010
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 61 57 6
16317551 2006
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. 6 61 57
12837870 2003
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. 61 6 57
11013134 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 6 57
17945527 2008
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 6 57
10832746 2000
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature. 61 6
30730842 2019
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. 61 6
23712021 2013
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 61 6
15615815 2005
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening. 61
31555323 2019
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). 61
27727436 2016
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots. 61
23499962 2013
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. 61
21290185 2012
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. 61
17883863 2007
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. 61
17393751 2007
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. 61
12872843 2003
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. 61
12112118 2002

Variations for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 183)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACADSB NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) SNV Pathogenic 9199 rs387906409 GRCh37: 10:124812676-124812676
GRCh38: 10:123053160-123053160
2 ACADSB NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) SNV Pathogenic 9200 rs137852649 GRCh37: 10:124802643-124802643
GRCh38: 10:123043127-123043127
3 ACADSB NM_001609.4(ACADSB):c.375dup (p.Glu126fs) Duplication Pathogenic 659271 rs756587384 GRCh37: 10:124800052-124800053
GRCh38: 10:123040536-123040537
4 ACADSB NM_001609.4(ACADSB):c.653dup (p.Val219fs) Duplication Pathogenic 859736 GRCh37: 10:124800866-124800867
GRCh38: 10:123041350-123041351
5 ACADSB NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) SNV Pathogenic 664690 rs201877440 GRCh37: 10:124812613-124812613
GRCh38: 10:123053097-123053097
6 ACADSB NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) SNV Pathogenic 281177 rs760791287 GRCh37: 10:124797355-124797355
GRCh38: 10:123037839-123037839
7 ACADSB NM_001609.3(ACADSB):c.303+3A>G SNV Pathogenic 448980 rs1345480688 GRCh37: 10:124797366-124797366
GRCh38: 10:123037850-123037850
8 ACADSB NM_001609.4(ACADSB):c.746del (p.Pro249fs) Deletion Pathogenic 1032759 GRCh37: 10:124802625-124802625
GRCh38: 10:123043109-123043109
9 ACADSB NM_001609.4(ACADSB):c.303+1G>A SNV Pathogenic/Likely pathogenic 203367 rs147936696 GRCh37: 10:124797364-124797364
GRCh38: 10:123037848-123037848
10 ACADSB NM_001609.4(ACADSB):c.1228+1G>A SNV Likely pathogenic 1032758 GRCh37: 10:124812677-124812677
GRCh38: 10:123053161-123053161
11 ACADSB NM_001609.4(ACADSB):c.1228+2T>C SNV Likely pathogenic 873443 GRCh37: 10:124812678-124812678
GRCh38: 10:123053162-123053162
12 ACADSB NC_000010.11:g.(?_123034356)_(123041379_?)del Deletion Likely pathogenic 583673 GRCh37: 10:124793872-124800895
GRCh38: 10:123034356-123041379
13 ACADSB NM_001609.3(ACADSB):c.795C>T (p.Phe265=) SNV Conflicting interpretations of pathogenicity 299080 rs150619709 GRCh37: 10:124802675-124802675
GRCh38: 10:123043159-123043159
14 ACADSB NM_001609.3(ACADSB):c.1128+3A>T SNV Conflicting interpretations of pathogenicity 299084 rs760423996 GRCh37: 10:124810705-124810705
GRCh38: 10:123051189-123051189
15 ACADSB NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) SNV Conflicting interpretations of pathogenicity 299087 rs148640214 GRCh37: 10:124812635-124812635
GRCh38: 10:123053119-123053119
16 ACADSB NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) SNV Conflicting interpretations of pathogenicity 299075 rs374420253 GRCh37: 10:124800835-124800835
GRCh38: 10:123041319-123041319
17 ACADSB NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) SNV Conflicting interpretations of pathogenicity 9203 rs188094280 GRCh37: 10:124812607-124812607
GRCh38: 10:123053091-123053091
18 ACADSB NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) SNV Conflicting interpretations of pathogenicity 9202 rs58639322 GRCh37: 10:124800121-124800121
GRCh38: 10:123040605-123040605
19 ACADSB NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr) SNV Uncertain significance 847747 GRCh37: 10:124810634-124810634
GRCh38: 10:123051118-123051118
20 ACADSB NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) SNV Uncertain significance 947014 GRCh37: 10:124793983-124793983
GRCh38: 10:123034467-123034467
21 ACADSB NM_001609.4(ACADSB):c.*195G>A SNV Uncertain significance 880161 GRCh37: 10:124813476-124813476
GRCh38: 10:123053960-123053960
22 ACADSB NM_001609.4(ACADSB):c.*263G>A SNV Uncertain significance 880162 GRCh37: 10:124813544-124813544
GRCh38: 10:123054028-123054028
23 ACADSB NM_001609.4(ACADSB):c.*1865C>T SNV Uncertain significance 880215 GRCh37: 10:124815146-124815146
GRCh38: 10:123055630-123055630
24 ACADSB NM_001609.4(ACADSB):c.*3178A>C SNV Uncertain significance 880263 GRCh37: 10:124816459-124816459
GRCh38: 10:123056943-123056943
25 ACADSB NM_001609.4(ACADSB):c.*3321C>T SNV Uncertain significance 880264 GRCh37: 10:124816602-124816602
GRCh38: 10:123057086-123057086
26 ACADSB NM_001609.4(ACADSB):c.*3332A>T SNV Uncertain significance 880265 GRCh37: 10:124816613-124816613
GRCh38: 10:123057097-123057097
27 ACADSB NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) SNV Uncertain significance 377304 rs199963793 GRCh37: 10:124812634-124812634
GRCh38: 10:123053118-123053118
28 ACADSB NM_001609.3(ACADSB):c.655G>A (p.Val219Met) SNV Uncertain significance 577108 rs553730391 GRCh37: 10:124800869-124800869
GRCh38: 10:123041353-123041353
29 ACADSB NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) SNV Uncertain significance 857375 GRCh37: 10:124810676-124810676
GRCh38: 10:123051160-123051160
30 ACADSB NM_001609.4(ACADSB):c.1015G>A (p.Val339Met) SNV Uncertain significance 1003861 GRCh37: 10:124810589-124810589
GRCh38: 10:123051073-123051073
31 ACADSB NM_001330174.2(ACADSB):c.-139T>G SNV Uncertain significance 654197 rs149562178 GRCh37: 10:124793896-124793896
GRCh38: 10:123034380-123034380
32 ACADSB NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) SNV Uncertain significance 850647 GRCh37: 10:124813214-124813214
GRCh38: 10:123053698-123053698
33 ACADSB NM_001609.4(ACADSB):c.1128+2dup Duplication Uncertain significance 1024373 GRCh37: 10:124810703-124810704
GRCh38: 10:123051187-123051188
34 ACADSB NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser) SNV Uncertain significance 1029359 GRCh37: 10:124800854-124800854
GRCh38: 10:123041338-123041338
35 ACADSB NM_001609.4(ACADSB):c.1052A>G (p.Tyr351Cys) SNV Uncertain significance 1032757 GRCh37: 10:124810626-124810626
GRCh38: 10:123051110-123051110
36 ACADSB NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) SNV Uncertain significance 1037854 GRCh37: 10:124768565-124768565
GRCh38: 10:123009049-123009049
37 ACADSB NM_001609.3(ACADSB):c.*3431C>G SNV Uncertain significance 299147 rs886046800 GRCh37: 10:124816712-124816712
GRCh38: 10:123057196-123057196
38 ACADSB NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) SNV Uncertain significance 299071 rs751722805 GRCh37: 10:124793924-124793924
GRCh38: 10:123034408-123034408
39 ACADSB NM_001609.3(ACADSB):c.*3597G>A SNV Uncertain significance 299150 rs755235760 GRCh37: 10:124816878-124816878
GRCh38: 10:123057362-123057362
40 ACADSB NM_001609.3(ACADSB):c.*2803T>C SNV Uncertain significance 299138 rs187253795 GRCh37: 10:124816084-124816084
GRCh38: 10:123056568-123056568
41 ACADSB NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) SNV Uncertain significance 299082 rs886046780 GRCh37: 10:124810636-124810636
GRCh38: 10:123051120-123051120
42 ACADSB NM_001609.3(ACADSB):c.*1682T>C SNV Uncertain significance 299115 rs886046790 GRCh37: 10:124814963-124814963
GRCh38: 10:123055447-123055447
43 ACADSB NM_001609.3(ACADSB):c.*285T>C SNV Uncertain significance 299101 rs552366364 GRCh37: 10:124813566-124813566
GRCh38: 10:123054050-123054050
44 ACADSB NM_001609.3(ACADSB):c.*1840T>G SNV Uncertain significance 299118 rs886046792 GRCh37: 10:124815121-124815121
GRCh38: 10:123055605-123055605
45 ACADSB NM_001609.3(ACADSB):c.-102G>C SNV Uncertain significance 299062 rs886046775 GRCh37: 10:124768444-124768444
GRCh38: 10:123008928-123008928
46 ACADSB NM_001609.3(ACADSB):c.*2060G>A SNV Uncertain significance 299124 rs886046795 GRCh37: 10:124815341-124815341
GRCh38: 10:123055825-123055825
47 ACADSB NM_001609.3(ACADSB):c.-22A>G SNV Uncertain significance 299067 rs563472823 GRCh37: 10:124768524-124768524
GRCh38: 10:123009008-123009008
48 ACADSB NM_001609.3(ACADSB):c.*2224A>C SNV Uncertain significance 299129 rs192771453 GRCh37: 10:124815505-124815505
GRCh38: 10:123055989-123055989
49 ACADSB NM_001609.3(ACADSB):c.*3390C>A SNV Uncertain significance 299146 rs751677400 GRCh37: 10:124816671-124816671
GRCh38: 10:123057155-123057155
50 ACADSB NM_001609.3(ACADSB):c.*3483T>G SNV Uncertain significance 299149 rs886046801 GRCh37: 10:124816764-124816764
GRCh38: 10:123057248-123057248

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

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

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:

# 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
Show member pathways
11.03 HSD17B10 ACADSB
Show member pathways
9.92 HSD17B10 ACADSB

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 HSD17B10 ACADSB

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 9.32 HSD17B10 ACADSB
2 lipid metabolic process GO:0006629 9.26 HSD17B10 ACADSB
3 fatty acid metabolic process GO:0006631 9.16 HSD17B10 ACADSB
4 branched-chain amino acid catabolic process GO:0009083 8.96 HSD17B10 ACADSB
5 isoleucine catabolic process GO:0006550 8.62 HSD17B10 ACADSB

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 HSD17B10 ACADSB

Sources for 2-Methylbutyryl-Coa Dehydrogenase Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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