SCADD
MCID: SHR003
MIFTS: 50

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

Neuronal diseases, Metabolic diseases categories

Summaries for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Short-Chain Acyl-Coa Dehydrogenase Deficiency, also known as scad deficiency, is related to hepatitis and myopathy. 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 Glucose metabolism and Glycolysis and gluconeogenesis (short map). The compounds 11beta-hydroxysteroid and oxaloacetate have been mentioned in the context of this disorder. Affiliated tissues include liver.

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

About this section
Sources:
19GeneReviews, 21Genetics Home Reference, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 20GeneTests, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

short-chain acyl-coa dehydrogenase deficiency 19 21
scad deficiency 19 42 21 44 48
acads deficiency 42 21 48
short chain acyl coa dehydrogenase deficiency 42 20
deficiency of butyryl-coa dehydrogenase 21 60
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
short-chain acyl-coenzyme a dehydrogenase deficiency 21
acyl-coa dehydrogenase, short-chain, deficiency of 46
multiple acyl coenzyme a dehydrogenase deficiency 60
short chain acyl-coa dehydrogenase deficiency 48
déficit en acads 48
scadd 48


External Ids:

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

Related Diseases for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to short-chain acyl-coa dehydrogenase deficiency

Clinical Features for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

201470

Clinical synopsis from OMIM:

201470

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Short-Chain Acyl-Coa Dehydrogenase Deficiency:

32
Liver

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

About this section

Publications for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
Sources:
50PubMed
See all sources

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

(show all 36)
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
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
13
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
14
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. (18175080)
2007
15
Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. (16101709)
2005
16
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
17
Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. (12706376)
2003
18
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. (14506246)
2003
19
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. (14595061)
2003
20
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. (14568186)
2003
21
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (11134486)
2001
22
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (9932958)
1999
23
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency. (10709668)
1999
24
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. (9578969)
1998
25
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency]. (9590088)
1998
26
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies. (9285781)
1997
27
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. (9266373)
1997
28
Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse. (8733888)
1996
29
Short-Chain Acyl-CoA Dehydrogenase Deficiency (21938826)
1993
30
Pathologic characterization of short-chain acyl-CoA dehydrogenase deficiency in BALB/cByJ mice. (8279487)
1993
31
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
32
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. (8276024)
1993
33
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
34
A murine model for short-chain acyl-CoA dehydrogenase deficiency. (2326304)
1990
35
Short-chain acyl-CoA dehydrogenase deficiency. (2326296)
1990
36
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. (6493275)
1984

Genetic Variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Short-Chain Acyl-Coa Dehydrogenase Deficiency:

62
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

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database
See all sources

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

About this section
Sources:
44Novoseek, 49PharmGKB, 2BitterDB, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

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

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
111beta-hydroxysteroid449.8ACADS, PCK2
2oxaloacetate449.8PCK2, PC
3delta(1)pyrroline-5-carboxylate449.8OTC, ASS1
4sodium benzoate49 210.8OTC, ASS1
5l-citrulline28 1110.8OTC, ASS1
6ammonium449.7OTC, ASS1
7glycerol 3-phosphate44 2410.7PC, PCK2
8fructose44 1110.7PCK2, PC
9alpha-ketoglutarate449.7PCK2, PC
10bicarbonate449.6PCK2, PC
11riboflavin44 11 2411.6ACADS, ACADM
12glucose 6-phosphate44 2410.6PC, PCK2
13acetyl-l-carnitine449.6ACADM, OTC
14bamhi449.6ACADM, OTC
15flavin-adenine dinucleotide44 1110.6ACADM, ACADS
16flavin449.6ACADS, ACADM
173-methylcrotonyl-coa44 2410.5PC, ACADM
18malate449.4PC, PCK2, OTC
192-methylbutyryl-coa44 2410.4ACADS, ACADM
20glycerol44 11 2411.3PC, PCK2, OTC
21phenylacetic acid49 44 2411.3ASS1, OTC, PC
22octanoyl-coa44 2410.3ACADM, ACADS
23oleic acid44 28 11 2412.3ACADM, PCK2
24carbamoyl phosphate449.3PC, OTC, ASS1
25citrulline44 2410.3ASS1, OTC, PC
26glycogen44 2410.3PC, PCK2, OTC
27nadh44 11 2411.3ASS1, ACADS, PC
28(2E)-Decenoyl-CoA249.2ACADS, ACADM
29(2E)-Tetradecenoyl-CoA249.2ACADS, ACADM
30(2E)-Dodecenoyl-CoA249.1ACADS, ACADM
31s-adenosylmethionine44 11 2411.1ACADS, ACADM, PC
32leucine449.1PCK2, OTC, ASS1
33chloramphenicol44 2 1111.0PCK2, OTC, ACADM
34lysine449.0PC, OTC, ACADM
35(2E)-Octenoyl-CoA248.9ACADS, ACADM
36phosphoenolpyruvate44 119.8ASS1, OTC, PCK2, PC
37ornithine44 249.8PC, PCK2, OTC, ASS1
38urea44 11 2410.8ASS1, OTC, PCK2, PC
39pyruvate448.8PC, PCK2, OTC, ASS1
40aspartate448.8ASS1, OTC, PCK2, PC
41atp44 289.7ASS1, OTC, PCK2, PC
42acetyl-coa44 249.6ACADS, ACADM, PCK2, PC
43glutamine448.6PC, PCK2, OTC, ACADM
44lactate448.6ACADM, OTC, PCK2, PC
45glucose448.5ACADM, OTC, PCK2, PC
46carnitine448.2ACADS, ACADM, OTC, PCK2, PC
47acyl-coa448.2PC, PCK2, OTC, ACADM, ACADS
48fatty acid448.2PC, PCK2, OTC, ACADM, ACADS
49lipid448.2PC, PCK2, OTC, ACADM, ACADS
50glutamate447.6PC, PCK2, OTC, ACADM, ACADS, ASS1

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

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057397.7PCK2, OTC, ACADM, ACADS, PC
2mitochondrial matrixGO:0057597.4ACADS, ACADM, OTC, PCK2, PC

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.6ASS1, OTC
2urea cycleGO:0000509.5OTC, ASS1
3glucose metabolic processGO:0060069.4PCK2, PC
4fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.4ACADS, ACADM
5gluconeogenesisGO:0060949.3PC, PCK2
6response to starvationGO:0425949.3ACADS, ACADM
7fatty acid beta-oxidationGO:0066359.2ACADS, ACADM
8liver developmentGO:0018898.9ACADM, OTC
9small molecule metabolic processGO:0442817.3ASS1, PC, PCK2, OTC, ACADM, ACADS

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.2ACADS, ACADM
2acyl-CoA dehydrogenase activityGO:0039958.9ACADS, ACADM

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short-Chain Acyl-Coa Dehydrogenase Deficiency

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet