SCADD
MCID: SHR003
MIFTS: 46

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

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

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NIH Rare Diseases:42 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 based summary: Short-Chain Acyl-Coa Dehydrogenase Deficiency, also known as scad deficiency, is related to myopathy and acute fatty liver of pregnancy, and has symptoms including 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:46 201470

GeneReviews summary for scad

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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Short-Chain Acyl-Coa Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Short-Chain Acyl-Coa Dehydrogenase Deficiency 19 21
Scad Deficiency 19 42 21 44 48
Short Chain Acyl Coa Dehydrogenase Deficiency 42 20 62
Acads Deficiency 42 21 48
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 21 62
Deficiency of Butyryl-Coa Dehydrogenase 21 62
Scadh Deficiency 42 21
 
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency 21
Lipid-Storage Myopathy Secondary to Short Chain Acyl Coa Dehydrogenase Deficiency 42
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 46
Multiple Acyl Coenzyme a Dehydrogenase Deficiency 62
Short Chain Acyl-Coa Dehydrogenase Deficiency 48
Scadd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
scad deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 201470
MESH via Orphanet35 C537596
ICD10 via Orphanet26 E71.3

Related Diseases for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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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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Symptoms by clinical synopsis from OMIM:

201470

Clinical features from OMIM:

201470

HPO human phenotypes related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 external ophthalmoplegia HP:0000544
3 psychosis HP:0000709
4 delayed speech and language development HP:0000750
5 seizures HP:0001250
6 muscular hypotonia HP:0001252
7 lethargy HP:0001254
8 global developmental delay HP:0001263
9 flexion contracture HP:0001371
10 failure to thrive HP:0001508
11 cardiomyopathy HP:0001638
12 abnormality of the cerebral white matter HP:0002500
13 scoliosis HP:0002650
14 myopathy HP:0003198
15 ethylmalonic aciduria HP:0003219
16 neonatal onset HP:0003623
17 episodic metabolic acidosis HP:0004911
18 feeding difficulties in infancy HP:0008872
19 facial palsy HP:0010628

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

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

(show all 32)
idTitleAuthorsYear
1
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. (24485985)
2014
2
First case report of short-chain acyl-CoA dehydrogenase deficiency in China. (23155713)
2012
3
Perioperative management of a pediatric patient with short-chain acyl-CoA dehydrogenase deficiency. (22608595)
2012
4
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
5
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. (22424739)
2012
6
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. (21483766)
2011
7
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis. (22754199)
2011
8
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood. (21500142)
2011
9
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. (20429031)
2010
10
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
11
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. (19952864)
2010
12
Perioperative management of a patient with short chain acyl-CoA dehydrogenase deficiency: a case report. (18848120)
2008
13
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. (18175080)
2007
14
Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. (16101709)
2005
15
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
16
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. (14595061)
2003
17
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. (14568186)
2003
18
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (11134486)
2001
19
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (9932958)
1999
20
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency. (10709668)
1999
21
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. (9578969)
1998
22
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies. (9285781)
1997
23
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. (9266373)
1997
24
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse. (8733888)
1996
25
Short-Chain Acyl-CoA Dehydrogenase Deficiency (21938826)
1993
26
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. (8279487)
1993
27
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
28
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. (8276024)
1993
29
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
30
A murine model for short-chain acyl-CoA dehydrogenase deficiency. (2326304)
1990
31
Short-chain acyl-CoA dehydrogenase deficiency. (2326296)
1990
32
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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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:

6 (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 pathogenicrs1800556GRCh37Chr 12, 121175678: 121175678
10ACADSNM_000017.2(ACADS): c.625G> A (p.Gly209Ser)single nucleotide variantLikely 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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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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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 cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
9.3OTC, ASS1
2
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.3OTC, ASS1
3
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
9.3OTC, ASS1
49.1ASS1, PC
5
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.1PCK2, PC
6
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.1PCK2, PC
7
Show member pathways
methylglyoxal degradation VI37
methylglyoxal degradation I37
9.1PCK2, PC
8
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1PC, PCK2
9
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
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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Sources:
44Novoseek, 50PharmGKB, 2BitterDB, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

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

(show all 40)
idCompoundScoreTop Affiliating Genes
111beta-hydroxysteroid449.8PCK2, ACADS
2sodium phenylbutyrate509.7OTC, ASS1
3delta(1)pyrroline-5-carboxylate449.7OTC, ASS1
4sodium benzoate50 210.7OTC, ASS1
5l-citrulline28 1110.7ASS1, OTC
6ammonium449.6OTC, ASS1
7oxaloacetate449.5PCK2, PC
8glycerol 3-phosphate44 2410.4PC, PCK2
9fructose44 1110.4PCK2, PC
10alpha-ketoglutarate449.3PCK2, PC
11chloramphenicol44 2 50 1112.3OTC, PCK2
12bicarbonate449.3PC, PCK2
13glucose 6-phosphate44 2410.2PC, PCK2
14biotin44 24 1111.1PCK2, PC
15s-adenosylmethionine44 24 1111.1ACADS, PC
16leucine449.1OTC, PCK2, ASS1
17acetyl-coa44 2410.0ACADS, PC, PCK2
18nadh44 24 1111.0ACADS, ASS1, PC
19phenylacetic acid50 44 2410.9OTC, PC, ASS1
20carbamoyl phosphate448.9ASS1, PC, OTC
21citrulline44 249.9PC, OTC, ASS1
22malate448.9PCK2, PC, OTC
23glycerol44 24 1110.9PC, OTC, PCK2
24glycogen44 249.8PC, PCK2, OTC
25glutamine448.8PC, PCK2, OTC
26lactate448.8OTC, PCK2, PC
27dexamethasone44 50 28 1111.8PC, ASS1, PCK2
28alanine448.7PCK2, ASS1, PC
29carnitine448.5PC, PCK2, OTC, ACADS
30acyl-coa448.5OTC, PCK2, PC, ACADS
31fatty acid448.4OTC, PC, PCK2, ACADS
32phosphoenolpyruvate44 119.4PCK2, PC, ASS1, OTC
33ornithine44 249.4PCK2, OTC, ASS1, PC
34urea44 24 1110.4OTC, PCK2, PC, ASS1
35pyruvate448.4OTC, PCK2, PC, ASS1
36lipid448.4ACADS, PC, PCK2, OTC
37aspartate448.4PC, PCK2, OTC, ASS1
38atp44 289.3OTC, PC, ASS1, PCK2
39glucose448.2PC, OTC, PCK2
40glutamate447.9ACADS, OTC, PCK2, PC, ASS1

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

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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

Sources for Short-Chain Acyl-Coa Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet