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

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of(来自ICD-11)

别称:

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

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