SCADD
MCID: SHR003
MIFTS: 45

Short-Chain Acyl-Coa Dehydrogenase Deficiency (SCADD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Short-chain acyl-coenzyme a (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 the lack 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: 10/6/2008

MalaCards: Short-Chain Acyl-Coa Dehydrogenase Deficiency, also known as scad deficiency, is related to myopathy and acute fatty liver of pregnancy. An important gene associated with Short-Chain Acyl-Coa Dehydrogenase Deficiency is ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain), and among its related pathways are Arginine and proline metabolism and Metabolism of amino acids and derivatives. The compounds 11beta-hydroxysteroid and sodium phenylbutyrate have been mentioned in the context of this disorder.

Genetics Home Reference:21 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).

Description from OMIM:47 201470

GeneReviews summary for scad

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

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
scad deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

short-chain acyl-coa dehydrogenase deficiency 19 21
scad deficiency 19 43 21 45 49
acads deficiency 43 21 49
short chain acyl coa dehydrogenase deficiency 43 20
deficiency of butyryl-coa dehydrogenase 21 62
scadh deficiency 43 21
lipid-storage myopathy secondary to short chain acyl coa dehydrogenase deficiency 43
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency 21
short-chain acyl-coenzyme a dehydrogenase deficiency 21
acyl-coa dehydrogenase, short-chain, deficiency of 47
multiple acyl coenzyme a dehydrogenase deficiency 62
short chain acyl-coa dehydrogenase deficiency 49
scadd 49


External Ids:

OMIM47 201470
MESH via Orphanet36 C537596
ICD10 via Orphanet26 E71.3

Related Diseases for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:



Diseases related to short-chain acyl-coa dehydrogenase deficiency

Symptoms for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

201470

Clinical features from OMIM:

201470

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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

Genetic Tests for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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20GeneTests
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Genetic tests related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Short Chain Acyl-Coa Dehydrogenase Deficiency20 ACADS

Anatomical Context for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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Animal Models for Short-Chain Acyl-Coa Dehydrogenase Deficiency or affiliated genes

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Publications for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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52PubMed
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Articles related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:

(show all 30)
idTitleAuthorsYear
1
First case report of short-chain acyl-CoA dehydrogenase deficiency in China. (23155713)
2012
2
Perioperative management of a pediatric patient with short-chain acyl-CoA dehydrogenase deficiency. (22608595)
2012
3
Central nervous system pathology in an infant with short-chain acyl-CoA dehydrogenase deficiency (SCADD): evidence for abnormal neuronal migration as part of its phenotypic spectrum. (22939177)
2012
4
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. (22424739)
2012
5
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. (21483766)
2011
6
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis. (22754199)
2011
7
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood. (21500142)
2011
8
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. (20429031)
2010
9
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. (20376488)
2010
10
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. (19952864)
2010
11
Perioperative management of a patient with short chain acyl-CoA dehydrogenase deficiency: a case report. (18848120)
2008
12
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. (18175080)
2007
13
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
14
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. (14595061)
2003
15
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. (14568186)
2003
16
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (11134486)
2001
17
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (9932958)
1999
18
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency. (10709668)
1999
19
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. (9578969)
1998
20
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies. (9285781)
1997
21
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. (9266373)
1997
22
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse. (8733888)
1996
23
Short-Chain Acyl-CoA Dehydrogenase Deficiency (21938826)
1993
24
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. (8279487)
1993
25
A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency. (8260192)
1993
26
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. (8276024)
1993
27
Molecular cloning and nucleotide sequence of cDNAs encoding human short chain acyl-CoA dehydrogenase and study of the molecular basis of human short chain acyl-CoA dehydrogenase deficiency. (2326316)
1990
28
A murine model for short-chain acyl-CoA dehydrogenase deficiency. (2326304)
1990
29
Short-chain acyl-CoA dehydrogenase deficiency. (2326296)
1990
30
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. (6493275)
1984

Variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency:

64
id Symbol AA change Variation ID SNP ID
1ACADSp.Arg46TrpVAR_000310
2ACADSp.Gly92CysVAR_000311
3ACADSp.Arg107CysVAR_000312
4ACADSp.Trp177ArgVAR_000314rs57443665
5ACADSp.Arg383CysVAR_000316rs28940872
6ACADSp.Gly90SerVAR_013565
7ACADSp.Ala192ValVAR_013568rs28940874
8ACADSp.Arg325TrpVAR_013569
9ACADSp.Ser353LeuVAR_013570rs28941773
10ACADSp.Arg380TrpVAR_013571rs28940875

Clinvar genetic disease variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1ACADSNM_000017.2(ACADS): c.164C> T (p.Pro55Leu)single nucleotide variantPathogenicrs147442301GRCh37Chr 12, 121164946: 121164946
2ACADSNM_000017.2(ACADS): c.1031A> G (p.Glu344Gly)single nucleotide variantPathogenicrs387906950GRCh37Chr 12, 121176944: 121176944
3ACADSNM_000017.2(ACADS): c.323G> A (p.Gly108Asp)single nucleotide variantPathogenicrs387906951GRCh37Chr 12, 121174901: 121174901
4ACADSNM_000017.2(ACADS): c.136C> T (p.Arg46Trp)single nucleotide variantPathogenicrs121908003GRCh37Chr 12, 121164918: 121164918
5ACADSNM_000017.2(ACADS): c.319C> T (p.Arg107Cys)single nucleotide variantPathogenicrs61732144GRCh37Chr 12, 121174897: 121174897
6ACADSNM_000017.2(ACADS): c.274G> T (p.Gly92Cys)single nucleotide variantPathogenicrs121908004GRCh37Chr 12, 121174852: 121174852
7ACADSNM_000017.2(ACADS): c.529T> C (p.Trp177Arg)single nucleotide variantPathogenicrs57443665GRCh37Chr 12, 121175696: 121175696
8ACADSNM_000017.2(ACADS): c.1147C> T (p.Arg383Cys)single nucleotide variantPathogenicrs28940872GRCh37Chr 12, 121177159: 121177159
9ACADSNM_000017.2(ACADS): c.511C> T (p.Arg171Trp)single nucleotide variantLikely pathogenic, Pathogenicrs1800556GRCh37Chr 12, 121175678: 121175678
10ACADSNM_000017.2(ACADS): c.625G> A (p.Gly209Ser)single nucleotide variantBenign, Likely pathogenic, Pathogenicrs1799958GRCh37Chr 12, 121176083: 121176083
11ACADSNM_000017.2(ACADS): c.268G> A (p.Gly90Ser)single nucleotide variantPathogenicrs121908005GRCh37Chr 12, 121174846: 121174846
12ACADSNM_000017.2(ACADS): c.310_312delGAG (p.Glu104del)deletionPathogenicrs387906308GRCh37Chr 12, 121174888: 121174890
13ACADSNM_000017.2(ACADS): c.575C> T (p.Ala192Val)single nucleotide variantPathogenicrs28940874GRCh37Chr 12, 121175742: 121175742
14ACADSNM_000017.2(ACADS): c.973C> T (p.Arg325Trp)single nucleotide variantPathogenicrs121908006GRCh37Chr 12, 121176662: 121176662
15ACADSNM_000017.2(ACADS): c.1058C> T (p.Ser353Leu)single nucleotide variantPathogenicrs28941773GRCh37Chr 12, 121176971: 121176971
16ACADSNM_000017.2(ACADS): c.1138C> T (p.Arg380Trp)single nucleotide variantPathogenicrs28940875GRCh37Chr 12, 121177150: 121177150

Expression for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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

Pathways for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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Sources:
50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 51PharmGKB
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Pathways related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
citrulline-nitric oxide cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
9.3OTC, ASS1
2
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.3OTC, ASS1
3
Show member pathways
glutamate biosynthesis II38
arginine biosynthesis IV38
9.3OTC, ASS1
49.1ASS1, PC
5
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.1PCK2, PC
6
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1PCK2, PC
7
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.1PCK2, PC
8
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
9.1PC, PCK2
9
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.1OTC, PC, ACADS, ASS1
10
Show member pathways
7.5ASS1, ACADS, PC, PCK2, OTC

Compounds for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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45Novoseek, 51PharmGKB, 3BitterDB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
111beta-hydroxysteroid459.8ACADS, PCK2
2sodium phenylbutyrate519.7OTC, ASS1
3sodium benzoate51 310.7OTC, ASS1
4delta(1)pyrroline-5-carboxylate459.7OTC, ASS1
5l-citrulline29 1110.7OTC, ASS1
6ammonium459.6OTC, ASS1
7oxaloacetate459.5PCK2, PC
8glycerol 3-phosphate45 2410.4PCK2, PC
9fructose45 1110.4PC, PCK2
10alpha-ketoglutarate459.3PCK2, PC
11chloramphenicol45 3 51 1112.3OTC, PCK2
12bicarbonate459.3PCK2, PC
13glucose 6-phosphate45 2410.2PCK2, PC
14biotin45 24 1111.1PC, PCK2
15s-adenosylmethionine45 24 1111.1PC, ACADS
16leucine459.1OTC, PCK2, ASS1
17acetyl-coa45 2410.0PCK2, PC, ACADS
18nadh45 24 1111.0PC, ACADS, ASS1
19phenylacetic acid51 45 2410.9OTC, PC, ASS1
20carbamoyl phosphate458.9OTC, PC, ASS1
21citrulline45 249.9ASS1, PC, OTC
22malate458.9OTC, PCK2, PC
23glycerol45 24 1110.9PC, PCK2, OTC
24glycogen45 249.8OTC, PCK2, PC
25glutamine458.8PC, PCK2, OTC
26lactate458.8OTC, PCK2, PC
27dexamethasone45 51 29 1111.8ASS1, PC, PCK2
28alanine458.7PCK2, PC, ASS1
29carnitine458.5ACADS, PC, PCK2, OTC
30acyl-coa458.5OTC, PCK2, PC, ACADS
31fatty acid458.4ACADS, PC, PCK2, OTC
32phosphoenolpyruvate45 119.4OTC, PCK2, PC, ASS1
33ornithine45 249.4ASS1, PC, PCK2, OTC
34urea45 24 1110.4ASS1, PC, PCK2, OTC
35pyruvate458.4ASS1, PC, PCK2, OTC
36lipid458.4ACADS, PC, PCK2, OTC
37aspartate458.4ASS1, PC, PCK2, OTC
38atp45 299.3ASS1, PC, PCK2, OTC
39glucose458.2OTC, PCK2, PC
40glutamate457.9OTC, PCK2, PC, ACADS, ASS1

GO Terms for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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16Gene Ontology
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Cellular components related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.1OTC, PCK2, PC, ACADS
2mitochondrial matrixGO:0057597.8OTC, PCK2, PC, ACADS

Biological processes related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.5ASS1, OTC
2urea cycleGO:0000509.4ASS1, OTC
3response to glucocorticoidGO:0513849.4ACADS, PCK2
4cellular nitrogen compound metabolic processGO:0346419.3OTC, ASS1
5oxaloacetate metabolic processGO:0061079.3PCK2, PC
6pyruvate metabolic processGO:0060909.2PCK2, PC
7gluconeogenesisGO:0060949.1PCK2, PC
8glucose metabolic processGO:0060068.8PCK2, PC
9small molecule metabolic processGO:0442817.7OTC, PCK2, PC, ACADS, ASS1

Products for genes affiliated with Short-Chain Acyl-Coa Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet