MCID: ISB001
MIFTS: 30

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 54 50 24 25 56 71 13 69
Deficiency of Isobutyryl-Coa Dehydrogenase 25 29
Ibd Deficiency 50 25
Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency of 50
Isobutyryl-Coenzyme a Dehydrogenase Deficiency 25
Isobutyric Aciduria 56
Acad8 Deficiency 50
Ibdd 71

Characteristics:

Orphanet epidemiological data:

56
isobutyryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
isobutyryl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 611283
Orphanet 56 ORPHA79159
MESH via Orphanet 43 C535541
UMLS via Orphanet 70 C1969809
ICD10 via Orphanet 34 E71.1
MedGen 40 C1969809

Summaries for Isobutyryl-Coa Dehydrogenase Deficiency

NIH Rare Diseases : 50 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, also known as deficiency of isobutyryl-coa dehydrogenase, is related to hemorrhagic destruction of the brain, subependymal calcification, and cataracts, and has symptoms including anemia, dilated cardiomyopathy and decreased plasma carnitine. An important gene associated with Isobutyryl-Coa Dehydrogenase Deficiency is ACAD8 (Acyl-CoA Dehydrogenase Family Member 8). Affiliated tissues include heart.

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 : 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

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

id Related Disease Score Top Affiliating Genes
1 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.5 ACAD8 ETFDH

Symptoms & Phenotypes for Isobutyryl-Coa Dehydrogenase Deficiency

Clinical features from OMIM:

611283

Human phenotypes related to Isobutyryl-Coa Dehydrogenase Deficiency:

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

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:

id Genetic test Affiliating Genes
1 Deficiency of Isobutyryl-Coa Dehydrogenase 29
2 Isobutyryl-Coa Dehydrogenase Deficiency 24 ACAD8

Anatomical Context for Isobutyryl-Coa Dehydrogenase Deficiency

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

39
Heart

Publications for Isobutyryl-Coa Dehydrogenase Deficiency

Articles related to Isobutyryl-Coa Dehydrogenase Deficiency:

id 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
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. ( 17304052 )
2007
4
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. ( 17924841 )
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
id 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
id 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.1129G> A (p.Gly377Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908419 GRCh37 Chromosome 11, 134132450: 134132450
3 ACAD8 NM_014384.2(ACAD8): c.988C> T (p.Arg330Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908420 GRCh37 Chromosome 11, 134131680: 134131680
4 ACAD8 NM_014384.2(ACAD8): c.867C> A (p.His289Gln) single nucleotide variant Pathogenic rs121908421 GRCh37 Chromosome 11, 134131194: 134131194
5 ACAD8 NM_014384.2(ACAD8): c.384G> A (p.Met128Ile) single nucleotide variant Pathogenic/Likely pathogenic rs374317179 GRCh37 Chromosome 11, 134128412: 134128412

Expression for Isobutyryl-Coa Dehydrogenase Deficiency

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

Pathways for Isobutyryl-Coa Dehydrogenase Deficiency

GO Terms for Isobutyryl-Coa Dehydrogenase Deficiency

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

id 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:

id 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:

id 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
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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59 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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