MCID: ISB001
MIFTS: 27

Isobutyryl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Isobutyryl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Isobutyryl-Coa Dehydrogenase Deficiency:

Name: Isobutyryl-Coa Dehydrogenase Deficiency 57 53 25 59 75 13 40 73
Deficiency of Isobutyryl-Coa Dehydrogenase 25 29 6
Ibd Deficiency 57 53 25
Acad8 Deficiency 57 53
Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency of 53
Acyl-Coa Dehydrogenase Family, Member 8, Deficiency of 57
Isobutyryl-Coenzyme a Dehydrogenase Deficiency 25
Isobutyryl-Coa Dehydrogenase Deficiency 37
Acyl-Coa Dehydrogenase Family, Member 8 13
Isobutyric Aciduria 59
Ibdd 75

Characteristics:

Orphanet epidemiological data:

59
isobutyryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
isobutyryl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 611283
Orphanet 59 ORPHA79159
MESH via Orphanet 45 C535541
UMLS via Orphanet 74 C1969809
ICD10 via Orphanet 34 E71.1
MedGen 42 C1969809
KEGG 37 H01279
UMLS 73 C1969809

Summaries for Isobutyryl-Coa Dehydrogenase Deficiency

NIH Rare Diseases : 53 Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner. Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.

MalaCards based summary : Isobutyryl-Coa Dehydrogenase Deficiency, is also known as deficiency of isobutyryl-coa dehydrogenase. An important gene associated with Isobutyryl-Coa Dehydrogenase Deficiency is ACAD8 (Acyl-CoA Dehydrogenase Family Member 8), and among its related pathways/superpathways is Valine, leucine and isoleucine degradation. Affiliated tissues include heart, and related phenotypes are muscular hypotonia and dilated cardiomyopathy

Genetics Home Reference : 25 Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.

UniProtKB/Swiss-Prot : 75 Isobutyryl-CoA dehydrogenase deficiency: The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia).

Wikipedia : 76 Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic... more...

Description from OMIM: 611283

Related Diseases for Isobutyryl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Isobutyryl-Coa Dehydrogenase Deficiency

Clinical features from OMIM:

611283

Human phenotypes related to Isobutyryl-Coa Dehydrogenase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 dilated cardiomyopathy 32 HP:0001644
3 anemia 32 HP:0001903
4 decreased plasma carnitine 32 HP:0003234

Drugs & Therapeutics for Isobutyryl-Coa Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Isobutyryl-Coa Dehydrogenase Deficiency

Genetic Tests for Isobutyryl-Coa Dehydrogenase Deficiency

Genetic tests related to Isobutyryl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Isobutyryl-Coa Dehydrogenase 29 ACAD8

Anatomical Context for Isobutyryl-Coa Dehydrogenase Deficiency

MalaCards organs/tissues related to Isobutyryl-Coa Dehydrogenase Deficiency:

41
Heart

Publications for Isobutyryl-Coa Dehydrogenase Deficiency

Articles related to Isobutyryl-Coa Dehydrogenase Deficiency:

# Title Authors Year
1
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia. ( 28053874 )
2017
2
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. ( 24635911 )
2014
3
Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. ( 22241096 )
2012
4
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. ( 17924841 )
2007
5
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. ( 17304052 )
2007
6
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. ( 15505379 )
2004
7
Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. ( 9889013 )
1998

Variations for Isobutyryl-Coa Dehydrogenase Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 ACAD8 p.Met128Ile VAR_035071 rs374317179
2 ACAD8 p.Asp134Tyr VAR_035072 rs367857040
3 ACAD8 p.Gly137Arg VAR_035073 rs371449613
4 ACAD8 p.Met152Thr VAR_035074 rs121908418
5 ACAD8 p.Val203Ile VAR_035075 rs759877257
6 ACAD8 p.Arg302Gln VAR_035076 rs121908422
7 ACAD8 p.Ala320Thr VAR_035077 rs200620279
8 ACAD8 p.Arg334Cys VAR_035078 rs778823613
9 ACAD8 p.Gln385Arg VAR_035079 rs367996531

ClinVar genetic disease variations for Isobutyryl-Coa Dehydrogenase Deficiency:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAD8 NM_014384.2(ACAD8): c.455T> C (p.Met152Thr) single nucleotide variant Pathogenic rs121908418 GRCh37 Chromosome 11, 134128483: 134128483
2 ACAD8 NM_014384.2(ACAD8): c.455T> C (p.Met152Thr) single nucleotide variant Pathogenic rs121908418 GRCh38 Chromosome 11, 134258589: 134258589
3 ACAD8 NM_014384.2(ACAD8): c.1129G> A (p.Gly377Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908419 GRCh37 Chromosome 11, 134132450: 134132450
4 ACAD8 NM_014384.2(ACAD8): c.1129G> A (p.Gly377Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908419 GRCh38 Chromosome 11, 134262556: 134262556
5 ACAD8 NM_014384.2(ACAD8): c.988C> T (p.Arg330Trp) single nucleotide variant Likely pathogenic rs121908420 GRCh37 Chromosome 11, 134131680: 134131680
6 ACAD8 NM_014384.2(ACAD8): c.988C> T (p.Arg330Trp) single nucleotide variant Likely pathogenic rs121908420 GRCh38 Chromosome 11, 134261786: 134261786
7 ACAD8 NM_014384.2(ACAD8): c.867C> A (p.His289Gln) single nucleotide variant Pathogenic rs121908421 GRCh37 Chromosome 11, 134131194: 134131194
8 ACAD8 NM_014384.2(ACAD8): c.867C> A (p.His289Gln) single nucleotide variant Pathogenic rs121908421 GRCh38 Chromosome 11, 134261300: 134261300
9 ACAD8 NM_014384.2(ACAD8): c.384G> A (p.Met128Ile) single nucleotide variant Pathogenic/Likely pathogenic rs374317179 GRCh37 Chromosome 11, 134128412: 134128412
10 ACAD8 NM_014384.2(ACAD8): c.384G> A (p.Met128Ile) single nucleotide variant Pathogenic/Likely pathogenic rs374317179 GRCh38 Chromosome 11, 134258518: 134258518
11 ACAD8 NM_014384.2(ACAD8): c.275A> G (p.Gln92Arg) single nucleotide variant Uncertain significance rs886048022 GRCh37 Chromosome 11, 134127046: 134127046
12 ACAD8 NM_014384.2(ACAD8): c.275A> G (p.Gln92Arg) single nucleotide variant Uncertain significance rs886048022 GRCh38 Chromosome 11, 134257152: 134257152
13 ACAD8 NM_014384.2(ACAD8): c.337G> A (p.Ala113Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs751633406 GRCh37 Chromosome 11, 134127108: 134127108
14 ACAD8 NM_014384.2(ACAD8): c.337G> A (p.Ala113Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs751633406 GRCh38 Chromosome 11, 134257214: 134257214
15 ACAD8 NM_014384.2(ACAD8): c.525C> T (p.Ser175=) single nucleotide variant Uncertain significance rs142343253 GRCh38 Chromosome 11, 134259042: 134259042
16 ACAD8 NM_014384.2(ACAD8): c.525C> T (p.Ser175=) single nucleotide variant Uncertain significance rs142343253 GRCh37 Chromosome 11, 134128936: 134128936
17 ACAD8 NM_014384.2(ACAD8): c.567+12C> T single nucleotide variant Uncertain significance rs375812492 GRCh37 Chromosome 11, 134128990: 134128990
18 ACAD8 NM_014384.2(ACAD8): c.567+12C> T single nucleotide variant Uncertain significance rs375812492 GRCh38 Chromosome 11, 134259096: 134259096
19 ACAD8 NM_014384.2(ACAD8): c.1195+12C> T single nucleotide variant Benign/Likely benign rs75333832 GRCh37 Chromosome 11, 134132528: 134132528
20 ACAD8 NM_014384.2(ACAD8): c.1195+12C> T single nucleotide variant Benign/Likely benign rs75333832 GRCh38 Chromosome 11, 134262634: 134262634
21 ACAD8 NM_014384.2(ACAD8): c.*168G> A single nucleotide variant Uncertain significance rs144390733 GRCh37 Chromosome 11, 134135022: 134135022
22 ACAD8 NM_014384.2(ACAD8): c.*168G> A single nucleotide variant Uncertain significance rs144390733 GRCh38 Chromosome 11, 134265128: 134265128
23 ACAD8 NM_014384.2(ACAD8): c.*238G> C single nucleotide variant Uncertain significance rs886048026 GRCh37 Chromosome 11, 134135092: 134135092
24 ACAD8 NM_014384.2(ACAD8): c.*238G> C single nucleotide variant Uncertain significance rs886048026 GRCh38 Chromosome 11, 134265198: 134265198
25 ACAD8 NM_014384.2(ACAD8): c.*351C> G single nucleotide variant Uncertain significance rs561907589 GRCh38 Chromosome 11, 134265311: 134265311
26 ACAD8 NM_014384.2(ACAD8): c.*351C> G single nucleotide variant Uncertain significance rs561907589 GRCh37 Chromosome 11, 134135205: 134135205
27 ACAD8 NM_014384.2(ACAD8): c.*608G> A single nucleotide variant Uncertain significance rs143912522 GRCh38 Chromosome 11, 134265568: 134265568
28 ACAD8 NM_014384.2(ACAD8): c.*608G> A single nucleotide variant Uncertain significance rs143912522 GRCh37 Chromosome 11, 134135462: 134135462
29 ACAD8 NM_014384.2(ACAD8): c.*696A> G single nucleotide variant Uncertain significance rs886048029 GRCh38 Chromosome 11, 134265656: 134265656
30 ACAD8 NM_014384.2(ACAD8): c.*696A> G single nucleotide variant Uncertain significance rs886048029 GRCh37 Chromosome 11, 134135550: 134135550
31 ACAD8 NM_014384.2(ACAD8): c.*705T> G single nucleotide variant Uncertain significance rs534413850 GRCh38 Chromosome 11, 134265665: 134265665
32 ACAD8 NM_014384.2(ACAD8): c.*705T> G single nucleotide variant Uncertain significance rs534413850 GRCh37 Chromosome 11, 134135559: 134135559
33 ACAD8 NM_014384.2(ACAD8): c.432A> G (p.Lys144=) single nucleotide variant Uncertain significance rs886048024 GRCh38 Chromosome 11, 134258566: 134258566
34 ACAD8 NM_014384.2(ACAD8): c.432A> G (p.Lys144=) single nucleotide variant Uncertain significance rs886048024 GRCh37 Chromosome 11, 134128460: 134128460
35 ACAD8 NM_014384.2(ACAD8): c.842-8C> G single nucleotide variant Uncertain significance rs201188279 GRCh37 Chromosome 11, 134131161: 134131161
36 ACAD8 NM_014384.2(ACAD8): c.842-8C> G single nucleotide variant Uncertain significance rs201188279 GRCh38 Chromosome 11, 134261267: 134261267
37 ACAD8 NM_014384.2(ACAD8): c.1233C> T (p.Ser411=) single nucleotide variant Uncertain significance rs146145710 GRCh37 Chromosome 11, 134134839: 134134839
38 ACAD8 NM_014384.2(ACAD8): c.1233C> T (p.Ser411=) single nucleotide variant Uncertain significance rs146145710 GRCh38 Chromosome 11, 134264945: 134264945
39 ACAD8 NM_014384.2(ACAD8): c.*377C> T single nucleotide variant Likely benign rs74738493 GRCh38 Chromosome 11, 134265337: 134265337
40 ACAD8 NM_014384.2(ACAD8): c.*377C> T single nucleotide variant Likely benign rs74738493 GRCh37 Chromosome 11, 134135231: 134135231
41 ACAD8 NM_014384.2(ACAD8): c.99C> T (p.Ser33=) single nucleotide variant Uncertain significance rs886048021 GRCh37 Chromosome 11, 134123593: 134123593
42 ACAD8 NM_014384.2(ACAD8): c.99C> T (p.Ser33=) single nucleotide variant Uncertain significance rs886048021 GRCh38 Chromosome 11, 134253699: 134253699
43 ACAD8 NM_014384.2(ACAD8): c.110-9T> C single nucleotide variant Uncertain significance rs371550147 GRCh38 Chromosome 11, 134256539: 134256539
44 ACAD8 NM_014384.2(ACAD8): c.110-9T> C single nucleotide variant Uncertain significance rs371550147 GRCh37 Chromosome 11, 134126433: 134126433
45 ACAD8 NM_014384.2(ACAD8): c.381-4T> A single nucleotide variant Uncertain significance rs886048023 GRCh37 Chromosome 11, 134128405: 134128405
46 ACAD8 NM_014384.2(ACAD8): c.381-4T> A single nucleotide variant Uncertain significance rs886048023 GRCh38 Chromosome 11, 134258511: 134258511
47 ACAD8 NM_014384.2(ACAD8): c.558T> C (p.Asn186=) single nucleotide variant Uncertain significance rs886048025 GRCh37 Chromosome 11, 134128969: 134128969
48 ACAD8 NM_014384.2(ACAD8): c.558T> C (p.Asn186=) single nucleotide variant Uncertain significance rs886048025 GRCh38 Chromosome 11, 134259075: 134259075
49 ACAD8 NM_014384.2(ACAD8): c.841+9C> T single nucleotide variant Uncertain significance rs777635296 GRCh37 Chromosome 11, 134131082: 134131082
50 ACAD8 NM_014384.2(ACAD8): c.841+9C> T single nucleotide variant Uncertain significance rs777635296 GRCh38 Chromosome 11, 134261188: 134261188

Expression for Isobutyryl-Coa Dehydrogenase Deficiency

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

Pathways for Isobutyryl-Coa Dehydrogenase Deficiency

Pathways related to Isobutyryl-Coa Dehydrogenase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

GO Terms for Isobutyryl-Coa Dehydrogenase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ACAD8 ETFDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 ACAD8 ETFDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 ACAD8 ETFDH
2 flavin adenine dinucleotide binding GO:0050660 8.62 ACAD8 ETFDH

Sources for Isobutyryl-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
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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