Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of (ACADVLD)

Alias:
Vlcad Deficiency
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Lcad Deficiency
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency
Long Chain Acyl-Coa Dehydrogenase Deficiency
Acadvld
Vlcadd
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency of
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency
Acyl-Coa Dehydrogenase Long-Chain Deficiency
Acadl Deficiency
Vlcad-C
Vlcad-H
Acadvl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of, also known as vlcad deficiency, is related to dlg4-related synaptopathy and intellectual developmental disorder, autosomal dominant 62, and has symptoms including lethargy and vomiting. An important gene associated with Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of is ACADVL (Acyl-CoA Dehydrogenase Very Long Chain), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and liver, and related phenotypes are increased circulating free fatty acid level and hypothermia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
32
170
194

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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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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