MCID: SCT003
MIFTS: 26

Scot Deficiency malady

Metabolic diseases category

Summaries for Scot Deficiency

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. An important gene associated with Scot Deficiency is OXCT1 (3-oxoacid CoA transferase 1). Affiliated tissues include brain and liver.

Description from OMIM:46 245050

Aliases & Classifications for Scot Deficiency

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Sources:
42NIH Rare Diseases, 48Orphanet, 22GTR, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

scot deficiency 42 48
succinyl-coa:3-oxoacid coa transferase deficiency 42 20 48
succinyl-coa acetoacetate transferase deficiency 42 22 48
succinyl-coa:3-ketoacid coa transferase deficiency 48
succinyl coa:3-oxoacid coa transferase deficiency 46
3-oxoacid coa transferase deficiency 42
ketoacidosis due to scot deficiency 42
oxct1 deficiency 48


External Ids:

OMIM46 245050
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet57 238004006

Related Diseases for Scot Deficiency

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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

Clinical Features for Scot Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

245050

Drugs & Therapeutics for Scot Deficiency

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Scot Deficiency:

32
Brain, Liver

Animal Models for Scot Deficiency or affiliated genes

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Publications for Scot Deficiency

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Genetic Variations for Scot Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Scot Deficiency:

62 (show all 11)
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Scot Deficiency

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GO Terms for genes affiliated with Scot Deficiency

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Products for genes affiliated with Scot Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scot 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet