Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency (SCOTD)

Alias:
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency
Succinyl-Coa Acetoacetate Transferase Deficiency
Scot Deficiency
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency
Succinyl-Coa:acetoacetate Transferase Deficiency
Ketoacidosis Due to Scot Deficiency
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency
Oxct1 Deficiency
Scotd
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency
Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency
Succinyl-Coa 3-Oxoacid Transferase Deficiency
Deficiency of 3-Oxoacid Coa-Transferase
3-Oxoacid Coa Transferase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to alpha-methylacetoacetic aciduria and 2-methylacetoacetyl coa thiolase deficiency. An important gene associated with Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency is OXCT1 (3-Oxoacid CoA-Transferase 1). Affiliated tissues include liver and brain, and related phenotypes are vomiting and tachypnea
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
4
18

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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