SCADD
MCID: SHR003
MIFTS: 45

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

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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:22 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:48 201470

GeneReviews summary for scad

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

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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 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):

50
scad deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

short-chain acyl-coa dehydrogenase deficiency 20 22
scad deficiency 20 44 22 46 50
acads deficiency 44 22 50
short chain acyl coa dehydrogenase deficiency 44 21
deficiency of butyryl-coa dehydrogenase 22 63
scadh deficiency 44 22
lipid-storage myopathy secondary to short chain acyl coa dehydrogenase deficiency 44
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency 22
short-chain acyl-coenzyme a dehydrogenase deficiency 22
acyl-coa dehydrogenase, short-chain, deficiency of 48
multiple acyl coenzyme a dehydrogenase deficiency 63
short chain acyl-coa dehydrogenase deficiency 50
scadd 50


External Ids:

OMIM48 201470
MESH via Orphanet37 C537596
ICD10 via Orphanet27 E71.3

Related Diseases for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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

Search CenterWatch for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Genetic Tests for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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21GeneTests
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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 Deficiency21 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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Sources:
53PubMed
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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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency:

65
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, 16Gene 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:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 52PharmGKB
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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 cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
9.3OTC, ASS1
2
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.3OTC, ASS1
3
Show member pathways
glutamate biosynthesis II39
arginine biosynthesis IV39
9.3OTC, ASS1
49.1ASS1, PC
5
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
9.1PCK2, PC
6
Show member pathways
glycolysis39
gluconeogenesis39
Glycolysis and Gluconeogenesis39
9.1PCK2, PC
7
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
9.1PCK2, PC
8
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.1PC, PCK2
9
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
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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46Novoseek, 52PharmGKB, 3BitterDB, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Short-Chain Acyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
111beta-hydroxysteroid469.8ACADS, PCK2
2sodium phenylbutyrate529.7OTC, ASS1
3sodium benzoate52 310.7OTC, ASS1
4delta(1)pyrroline-5-carboxylate469.7OTC, ASS1
5l-citrulline30 1210.7OTC, ASS1
6ammonium469.6OTC, ASS1
7oxaloacetate469.5PCK2, PC
8glycerol 3-phosphate46 2510.4PCK2, PC
9fructose46 1210.4PC, PCK2
10alpha-ketoglutarate469.3PCK2, PC
11chloramphenicol46 3 52 1212.3OTC, PCK2
12bicarbonate469.3PCK2, PC
13glucose 6-phosphate46 2510.2PCK2, PC
14biotin46 25 1211.1PC, PCK2
15s-adenosylmethionine46 25 1211.1PC, ACADS
16leucine469.1OTC, PCK2, ASS1
17acetyl-coa46 2510.0PCK2, PC, ACADS
18nadh46 25 1211.0PC, ACADS, ASS1
19phenylacetic acid52 46 2510.9OTC, PC, ASS1
20carbamoyl phosphate468.9OTC, PC, ASS1
21citrulline46 259.9ASS1, PC, OTC
22malate468.9OTC, PCK2, PC
23glycerol46 25 1210.9PC, PCK2, OTC
24glycogen46 259.8OTC, PCK2, PC
25glutamine468.8PC, PCK2, OTC
26lactate468.8OTC, PCK2, PC
27dexamethasone46 52 30 1211.8ASS1, PC, PCK2
28alanine468.7PCK2, PC, ASS1
29carnitine468.5ACADS, PC, PCK2, OTC
30acyl-coa468.5OTC, PCK2, PC, ACADS
31fatty acid468.4ACADS, PC, PCK2, OTC
32phosphoenolpyruvate46 129.4OTC, PCK2, PC, ASS1
33ornithine46 259.4ASS1, PC, PCK2, OTC
34urea46 25 1210.4ASS1, PC, PCK2, OTC
35pyruvate468.4ASS1, PC, PCK2, OTC
36lipid468.4ACADS, PC, PCK2, OTC
37aspartate468.4ASS1, PC, PCK2, OTC
38atp46 309.3ASS1, PC, PCK2, OTC
39glucose468.2OTC, PCK2, PC
40glutamate467.9OTC, PCK2, PC, ACADS, ASS1

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

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet