Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of (ACADMD)

Alias:
Mcad Deficiency
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Acadm Deficiency
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of
Mcadh Deficiency
Mcadd
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Medium-Chain Acyl-Coa Dehydrogenase Deficiency
Acadmd
Acyl-Coa Dehydrogenase Medium-Chain Deficiency
Medium Chain Acyl Coa Dehydrogenase Deficiency
Medium Chain Acyl Dehydrogenase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of, also known as mcad deficiency, is related to acyl-coa dehydrogenase deficiency and lipoid congenital adrenal hyperplasia, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of is ACADM (Acyl-CoA Dehydrogenase Medium Chain), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are hypotonia and hepatomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
18
91
166

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
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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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PMID
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IF
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