" /> Alpha-methylacyl-coa racemase deficiency - CISMeF





Preferred Label : Alpha-methylacyl-coa racemase deficiency;

Symbol : AMACRD;

CISMeF acronym : AMACRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amacr deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-methylacyl-CoA racemase gene (AMACR, 604489.0001);

Laboratory abnormalities : Increased serum pristanic acid; Normal or increased serum phytanic acid; Increased serum C26-bile-acid intermediates;

Prefixed ID : #614307;

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27/07/2025


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