MCID: SCT003
MIFTS: 27

Scot Deficiency malady

Metabolic category

Summaries for Scot Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Scot deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid coa transferase. this enzyme is necessary for the body to use ketones. ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. scot deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). in ketoacidosis ketones build-up in the body. symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. crises need to be addressed immediately. fortunately these crises tend to respond well to iv fluids including glucose and sodium bicarbonate. patients with scot defiency are symptom free between episodes. this deficiency can be caused by mutations in the oxct1 gene. last updated: 9/4/2010

MalaCards: Scot Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to succinyl-coa:3-ketoacid coa transferase deficiency and b cell deficiency. An important gene associated with Scot Deficiency is OXCT1 (3-oxoacid CoA transferase 1). Affiliated tissues include liver, brain and heart.

Description from OMIM:47 245050

Aliases & Classifications for Scot Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

scot deficiency 43 49
succinyl-coa:3-oxoacid coa transferase deficiency 43 20 49
succinyl-coa acetoacetate transferase deficiency 43 22 49
succinyl-coa:3-ketoacid coa transferase deficiency 49
succinyl coa:3-oxoacid coa transferase deficiency 47
3-oxoacid coa transferase deficiency 43
ketoacidosis due to scot deficiency 43
oxct1 deficiency 49


External Ids:

OMIM47 245050
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet58 238004006

Related Diseases for Scot Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Scot Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1succinyl-coa:3-ketoacid coa transferase deficiency10.4
2b cell deficiency10.1
3t cell deficiency10.1

Clinical Features for Scot Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

245050

Drugs & Therapeutics for Scot Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Scot Deficiency

Search CenterWatch for Scot Deficiency

Genetic Tests for Scot Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Scot Deficiency:

id Genetic test Affiliating Genes
1 Succinyl-coa:3-oxoacid Coa Transferase Deficiency20 OXCT1
2 Succinyl-coa Acetoacetate Transferase Deficiency22

Anatomical Context for Scot Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Scot Deficiency:

33
Liver, Brain, Heart, B cells

Animal Models for Scot Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Scot Deficiency

Sources:
51PubMed
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Articles related to Scot Deficiency:

(show all 20)
idTitleAuthorsYear
1
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (23420214)
2013
2
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). (23061683)
2012
3
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (21296660)
2011
4
Is vitamin D deficiency a risk factor for ischemic heart disease in patients with established cardiovascular disease? 10-year follow-up of the Nova Scotia Health Survey. (21396725)
2011
5
Xerophthalmia because of dietary-induced vitamin a deficiency in a young Scottish man. (20489600)
2010
6
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. (19854246)
2010
7
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. (19351331)
2009
8
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. (16765626)
2006
9
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. (15669687)
2004
10
Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. (15330163)
2004
11
Nova Scotia moose mystery--a moose sickness related to cobalt- and vitamin B12 deficiency. (14654277)
2004
12
Is color vision deficiency an advantage under scotopic conditions? (11726645)
2001
13
Chronic vitamin E deficiency causing spinocerebellar degeneration, peripheral neuropathy, and centro-cecal scotomata. (10198917)
1999
14
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (9671268)
1998
15
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. (9057642)
1997
16
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. (9128180)
1997
17
Biotinidase deficiency in Scotland. (8050627)
1994
18
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). (8127075)
1993
19
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. (2515386)
1989
20
Factor IX deficiency (hemophilia B) in a Scottish terrier. (6826437)
1983

Genetic Variations for Scot Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Scot Deficiency:

63 (show all 11)
id Symbol AA change Variation SNP ID
1OXCT1p.Val133GluVAR_000696
2OXCT1p.Cys456PheVAR_000697
3OXCT1p.Gly219GluVAR_010337
4OXCT1p.Val221MetVAR_010338
5OXCT1p.Gly324GluVAR_010339
6OXCT1p.Ala215ValVAR_065564rs201752548
7OXCT1p.Ser226AsnVAR_065565
8OXCT1p.Leu327ProVAR_065566
9OXCT1p.Val404PheVAR_065567
10OXCT1p.Ser405ProVAR_065568
11OXCT1p.Arg468CysVAR_065569

Expression for genes affiliated with Scot Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Scot Deficiency

Search GEO for disease gene expression data for Scot Deficiency.

Pathways for genes affiliated with Scot Deficiency

Compounds for genes affiliated with Scot Deficiency

GO Terms for genes affiliated with Scot Deficiency

Products for genes affiliated with Scot Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scot Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet