" /> Aica-ribosiduria due to atic deficiency - CISMeF





Preferred Label : Aica-ribosiduria due to atic deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aicar transformylase/imp cyclohydrolase deficiency; Atic deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AICAR formyltransferase/IMP cyclohydrolase gene (ATIC, 601731.0001);

Laboratory abnormalities : Deficient fibroblast AICAR-TF activity; Positive urinary Bratton-Marshall test; Elevated urinary and CSF 5-amino-4-imidazolecarboxyamide (AICA-riboside); Elevated erythrocyte AICAR (ZMP);

Prefixed ID : #608688;

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27/07/2025


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