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Definition

An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.

Acronym

ACADMD

Synonyms

ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency
MCAD deficiency
MCADH deficiency

 
Disclaimer

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