Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of (ACADSD)

Alias:
Scad Deficiency
Acads Deficiency
Short Chain Acyl-Coa Dehydrogenase Deficiency
Deficiency of Butyryl-Coa Dehydrogenase
Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency
Short-Chain Acyl-Coa Dehydrogenase Deficiency
Scadh Deficiency
Scadd
Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Acadsd
Acyl-Coa Dehydrogenase, Short Chain, Deficiency of
Acyl-Coa Dehydrogenase Short-Chain Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of, also known as scad deficiency, is related to isobutyryl-coa dehydrogenase deficiency and acyl-coa dehydrogenase deficiency, and has symptoms including lethargy, seizures and muscle weakness. An important gene associated with Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of is ACADS (Acyl-CoA Dehydrogenase Short Chain), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include skeletal muscle and cortex, and related phenotypes are failure to thrive and neurodevelopmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
16
86
78

Medical Symptom

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Description
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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