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 53 49 24 55 71 13 69
Ibd Deficiency 53 49 24
Deficiency of Isobutyryl-Coa Dehydrogenase 24 28
Acad8 Deficiency 53 49
Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency of 49
Acyl-Coa Dehydrogenase Family, Member 8, Deficiency of 53
Isobutyryl-Coenzyme a Dehydrogenase Deficiency 24
Isobutyryl-Coa Dehydrogenase Deficiency 36
Acyl-Coa Dehydrogenase Family, Member 8 13
Isobutyric Aciduria 55
Ibdd 71

Characteristics:

Orphanet epidemiological data:

55
isobutyryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

31
isobutyryl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 611283
Orphanet 55 ORPHA79159
MESH via Orphanet 42 C535541
UMLS via Orphanet 70 C1969809
ICD10 via Orphanet 33 E71.1
MedGen 39 C1969809
KEGG 36 H01279
UMLS 69 C1969809

Summaries for Isobutyryl-Coa Dehydrogenase Deficiency

NIH Rare Diseases : 49 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. Last updated: 6/19/2016

MalaCards based summary : Isobutyryl-Coa Dehydrogenase Deficiency, is also known as ibd deficiency, and has symptoms including muscular hypotonia, dilated cardiomyopathy and anemia. 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.

Genetics Home Reference : 24 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 : 71 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).

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:

31
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 HP:0001252
2 dilated cardiomyopathy 31 HP:0001644
3 anemia 31 HP:0001903
4 decreased plasma carnitine 31 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 28 ACAD8

Anatomical Context for Isobutyryl-Coa Dehydrogenase Deficiency

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

38
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
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. ( 17924841 )
2007
4
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. ( 17304052 )
2007
5
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. ( 15505379 )
2004
6
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAD8 NM_014384.2(ACAD8): c.384G> A (p.Met128Ile) single nucleotide variant Pathogenic/Likely pathogenic rs374317179 GRCh37 Chromosome 11, 134128412: 134128412
2 ACAD8 NM_014384.2(ACAD8): c.455T> C (p.Met152Thr) single nucleotide variant Pathogenic rs121908418 GRCh37 Chromosome 11, 134128483: 134128483
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.988C> T (p.Arg330Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908420 GRCh37 Chromosome 11, 134131680: 134131680
5 ACAD8 NM_014384.2(ACAD8): c.867C> A (p.His289Gln) single nucleotide variant Pathogenic rs121908421 GRCh37 Chromosome 11, 134131194: 134131194

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:

36
# 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 mitochondrion GO:0005739 8.96 ACAD8 ETFDH
2 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
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16 ExPASy
18 FMA
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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