MCID: ACY005
MIFTS: 43

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

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

Aliases & Classifications for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

MalaCards integrated aliases for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

Name: Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 53 13
Scad Deficiency 53 72 23 49 24 55 71 36 51
Acads Deficiency 53 49 24 55 71
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 53 49 24 71
Short-Chain Acyl-Coa Dehydrogenase Deficiency 72 23 49 24
Scadh Deficiency 53 49 24 71
Short Chain Acyl-Coa Dehydrogenase Deficiency 12 55 14
Deficiency of Butyryl-Coa Dehydrogenase 24 28 69
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 49 24
Acadsd 53 71
Acyl-Coa Dehydrogenase, Short Chain, Deficiency of 72
Acyl-Coa Dehydrogenase Short-Chain Deficiency 71
Scadd 55

Characteristics:

Orphanet epidemiological data:

55
short chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Netherlands); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset birth to early childhood
highly variable phenotype, ranging from asymptomatic to severe


HPO:

31
acyl-coa dehydrogenase, short-chain, deficiency of:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

NIH Rare Diseases : 49 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy. This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD). SCAD deficiency is caused by mutations in the ACADS gene. These mutations lead to a shortage (deficiency) of an enzyme known as short-chain acyl-CoA dehydrogenase, which is involved in the breakdown of short-chain fatty acids. When not enough of this enzyme is present, excessive amounts of fatty acids and ammonia accumulate in the body. The symptoms of SCAD deficiency include a lack of energy, poor growth, and developmental delay. Treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting). Last updated: 2/5/2016

MalaCards based summary : Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to acyl-coa dehydrogenase, very long-chain, deficiency of and myopathy, and has symptoms including seizures, lethargy and failure to thrive. An important gene associated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of is ACADS (Acyl-CoA Dehydrogenase Short Chain), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. Related phenotypes are liver/biliary system and renal/urinary system

OMIM : 53 SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by Shirao et al., 2010). (201470)

UniProtKB/Swiss-Prot : 71 Acyl-CoA dehydrogenase short-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid- storage myopathy in adults.

Genetics Home Reference : 24 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).

Disease Ontology : 12 A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.

Wikipedia : 72 Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), also called ACADS deficiency and SCAD... more...

GeneReviews: NBK63582

Related Diseases for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Graphical network of the top 20 diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:



Diseases related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Symptoms & Phenotypes for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
developmental delay
hypotonia
speech delay
more
Skeletal Spine:
scoliosis

Head And Neck Face:
facial muscle weakness

Growth Other:
chronic failure to thrive

Cardiovascular Heart:
cardiomyopathy (rare)

Metabolic Features:
acute metabolic decompensation
metabolic acidosis, episodic

Muscle Soft Tissue:
muscle weakness
myopathy
hypotonia
lipid storage myopathy
multiminicore myopathy

Abdomen Gastroin testinal:
feeding difficulties

Skeletal:
contractures

Head And Neck Eyes:
external ophthalmoplegia, progressive (rare)

Neurologic Behavioral Psychiatric Manifestations:
psychosis (rare)

Laboratory Abnormalities:
ethylmalonic aciduria
methylsuccinic aciduria
decreased scad activity
increased serum acyl carnitines
increased serum butyryl carnitine


Clinical features from OMIM:

201470

Human phenotypes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 lethargy 31 HP:0001254
3 failure to thrive 31 HP:0001508
4 scoliosis 31 HP:0002650
5 facial palsy 31 HP:0010628
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 flexion contracture 31 HP:0001371
9 feeding difficulties in infancy 31 HP:0008872
10 myopathy 31 HP:0003198
11 cardiomyopathy 31 HP:0001638
12 progressive external ophthalmoplegia 31 occasional (7.5%) HP:0000590
13 psychosis 31 HP:0000709
14 external ophthalmoplegia 31 occasional (7.5%) HP:0000544
15 generalized hypotonia 31 HP:0001290
16 abnormality of the cerebral white matter 31 HP:0002500
17 ethylmalonic aciduria 31 HP:0003219
18 episodic metabolic acidosis 31 HP:0004911

UMLS symptoms related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:


facial paresis, muscle weakness, seizures, lethargy

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.35 ACAD8 ACADL ACADM ACADS SLC25A13
2 renal/urinary system MP:0005367 8.92 ACAD8 ACADL ACADS SLC25A13

Drugs & Therapeutics for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Search Clinical Trials , NIH Clinical Center for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Genetic Tests for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Genetic tests related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

# Genetic test Affiliating Genes
1 Deficiency of Butyryl-Coa Dehydrogenase 28 ACADS

Anatomical Context for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Publications for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Articles related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

# Title Authors Year
1
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. ( 18676165 )
2008
2
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. ( 18523805 )
2008
3
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. ( 12706376 )
2003
4
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. ( 14506246 )
2003
5
[Short-chain acyl-CoA dehydrogenase (SCAD) deficiency]. ( 9590088 )
1998

Variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

UniProtKB/Swiss-Prot genetic disease variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

71
# Symbol AA change Variation ID SNP ID
1 ACADS p.Arg46Trp VAR_000310 rs121908003
2 ACADS p.Gly92Cys VAR_000311 rs121908004
3 ACADS p.Arg107Cys VAR_000312 rs61732144
4 ACADS p.Trp177Arg VAR_000314 rs57443665
5 ACADS p.Arg383Cys VAR_000316 rs28940872
6 ACADS p.Gly90Ser VAR_013565 rs121908005
7 ACADS p.Ala192Val VAR_013568 rs28940874
8 ACADS p.Arg325Trp VAR_013569 rs121908006
9 ACADS p.Ser353Leu VAR_013570 rs28941773
10 ACADS p.Arg380Trp VAR_013571 rs28940875

ClinVar genetic disease variations for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADS NM_000017.3(ACADS): c.164C> T (p.Pro55Leu) single nucleotide variant Pathogenic rs147442301 GRCh37 Chromosome 12, 121164946: 121164946
2 ACADS NM_000017.3(ACADS): c.1031A> G (p.Glu344Gly) single nucleotide variant Pathogenic/Likely pathogenic rs387906950 GRCh37 Chromosome 12, 121176944: 121176944
3 ACADS NM_000017.3(ACADS): c.323G> A (p.Gly108Asp) single nucleotide variant Pathogenic rs387906951 GRCh37 Chromosome 12, 121174901: 121174901
4 ACADS NM_000017.3(ACADS): c.409C> T (p.Gln137Ter) single nucleotide variant Likely pathogenic rs752677472 GRCh38 Chromosome 12, 120737404: 120737404
5 ACADS NM_000017.3(ACADS): c.682_683delGA (p.Glu228Argfs) deletion Pathogenic/Likely pathogenic rs786204691 GRCh37 Chromosome 12, 121176140: 121176141
6 ACADS NM_000017.3(ACADS): c.136C> T (p.Arg46Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908003 GRCh37 Chromosome 12, 121164918: 121164918
7 ACADS NM_000017.3(ACADS): c.319C> T (p.Arg107Cys) single nucleotide variant Pathogenic rs61732144 GRCh37 Chromosome 12, 121174897: 121174897
8 ACADS NM_000017.3(ACADS): c.274G> T (p.Gly92Cys) single nucleotide variant Pathogenic rs121908004 GRCh37 Chromosome 12, 121174852: 121174852
9 ACADS NM_000017.3(ACADS): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57443665 GRCh37 Chromosome 12, 121175696: 121175696
10 ACADS NM_000017.3(ACADS): c.1147C> T (p.Arg383Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940872 GRCh37 Chromosome 12, 121177159: 121177159
11 ACADS NM_000017.3(ACADS): c.268G> A (p.Gly90Ser) single nucleotide variant Pathogenic rs121908005 GRCh37 Chromosome 12, 121174846: 121174846
12 ACADS NM_000017.3(ACADS): c.310_312delGAG (p.Glu104del) deletion Pathogenic/Likely pathogenic rs387906308 GRCh37 Chromosome 12, 121174888: 121174890
13 ACADS NM_000017.3(ACADS): c.575C> T (p.Ala192Val) single nucleotide variant Pathogenic rs28940874 GRCh37 Chromosome 12, 121175742: 121175742
14 ACADS NM_000017.3(ACADS): c.973C> T (p.Arg325Trp) single nucleotide variant Pathogenic rs121908006 GRCh37 Chromosome 12, 121176662: 121176662
15 ACADS NM_000017.3(ACADS): c.1058C> T (p.Ser353Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28941773 GRCh37 Chromosome 12, 121176971: 121176971
16 ACADS NM_000017.3(ACADS): c.1138C> T (p.Arg380Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28940875 GRCh37 Chromosome 12, 121177150: 121177150
17 ACADS NM_000017.3(ACADS): c.1095G> T (p.Gln365His) single nucleotide variant Pathogenic/Likely pathogenic rs368469075 GRCh37 Chromosome 12, 121177107: 121177107
18 ACADS NM_000017.3(ACADS): c.32delG (p.Gly11Alafs) deletion Likely pathogenic rs1057516967 GRCh37 Chromosome 12, 121163720: 121163720
19 ACADS NM_000017.3(ACADS): c.125_135delTCCAGACATGC (p.Leu42Profs) deletion Likely pathogenic rs1057516733 GRCh38 Chromosome 12, 120727104: 120727114
20 ACADS NM_000017.3(ACADS): c.211-1G> A single nucleotide variant Likely pathogenic rs1057516566 GRCh37 Chromosome 12, 121174788: 121174788
21 ACADS NM_000017.3(ACADS): c.315delC (p.Ser106Alafs) deletion Likely pathogenic rs1057516385 GRCh37 Chromosome 12, 121174893: 121174893
22 ACADS NM_000017.3(ACADS): c.369C> G (p.Tyr123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749491616 GRCh37 Chromosome 12, 121175167: 121175167
23 ACADS NM_000017.3(ACADS): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs149107232 GRCh37 Chromosome 12, 121175215: 121175215
24 ACADS NM_000017.3(ACADS): c.473-2A> G single nucleotide variant Likely pathogenic rs1057516231 GRCh37 Chromosome 12, 121175638: 121175638
25 ACADS NM_000017.3(ACADS): c.527C> A (p.Ser176Ter) single nucleotide variant Likely pathogenic rs1057516848 GRCh38 Chromosome 12, 120737891: 120737891
26 ACADS NM_000017.3(ACADS): c.593_594delTT (p.Phe198Cysfs) deletion Likely pathogenic rs1057516685 GRCh37 Chromosome 12, 121175760: 121175761
27 ACADS NM_000017.3(ACADS): c.675dupG (p.Lys226Glufs) duplication Likely pathogenic rs1057516436 GRCh37 Chromosome 12, 121176133: 121176133
28 ACADS NM_000017.3(ACADS): c.910dupC (p.Leu304Profs) duplication Likely pathogenic rs1057516606 GRCh38 Chromosome 12, 120738647: 120738647
29 ACADS NM_000017.3(ACADS): c.1029+1G> A single nucleotide variant Likely pathogenic rs1057516639 GRCh37 Chromosome 12, 121176719: 121176719
30 ACADS NM_000017.3(ACADS): c.1031delA (p.Glu344Glyfs) deletion Likely pathogenic rs1057517155 GRCh38 Chromosome 12, 120739141: 120739141
31 ACADS NM_000017.3(ACADS): c.1084C> T (p.Gln362Ter) single nucleotide variant Likely pathogenic rs541587321 GRCh37 Chromosome 12, 121176997: 121176997
32 ACADS NM_000017.3(ACADS): c.1164_1165delTG (p.Glu389Aspfs) deletion Likely pathogenic rs1057516421 GRCh38 Chromosome 12, 120739373: 120739374
33 ACADS NM_000017.3(ACADS): c.1192C> T (p.Gln398Ter) single nucleotide variant Likely pathogenic rs767774362 GRCh37 Chromosome 12, 121177204: 121177204

Expression for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Search GEO for disease gene expression data for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of.

Pathways for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Pathways related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 ACAD8 ACADL ACADM ACADS ACADSB SLC25A13
2
Show member pathways
12.35 ACADL ACADM ACADS
3
Show member pathways
11.33 ACAD8 ACADM ACADS ACADSB
4
Show member pathways
11.25 ACADL ACADM ACADS
5 11.23 ACADL ACADM
6
Show member pathways
11.06 ACADL ACADM ACADS
7
Show member pathways
10.89 ACADL ACADM ACADS ACADSB

GO Terms for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

Cellular components related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 ACAD8 ACADL ACADM ACADS ACADSB SLC25A13
2 mitochondrial membrane GO:0031966 9.16 ACADL ACADM
3 mitochondrial matrix GO:0005759 9.02 ACAD8 ACADL ACADM ACADS ACADSB

Biological processes related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 ACAD8 ACADL ACADM ACADS ACADSB
2 lipid metabolic process GO:0006629 9.65 ACAD8 ACADL ACADM ACADS ACADSB
3 metabolic process GO:0008152 9.55 ACAD8 ACADL ACADM ACADS ACADSB
4 fatty acid beta-oxidation GO:0006635 9.54 ACADL ACADM ACADS
5 branched-chain amino acid catabolic process GO:0009083 9.43 ACAD8 ACADSB
6 carnitine metabolic process, CoA-linked GO:0019254 9.4 ACADL ACADM
7 fatty acid metabolic process GO:0006631 9.26 ACADL ACADM ACADS ACADSB
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.8 ACADL ACADM ACADS

Molecular functions related to Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 ACAD8 ACADL ACADM ACADS ACADSB
2 flavin adenine dinucleotide binding GO:0050660 9.55 ACAD8 ACADL ACADM ACADS ACADSB
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.35 ACAD8 ACADL ACADM ACADS ACADSB
4 acyl-CoA dehydrogenase activity GO:0003995 9.02 ACAD8 ACADL ACADM ACADS ACADSB

Sources for Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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