" /> Xanthinuria, type II - CISMeF





Preferred Label : Xanthinuria, type II;

Symbol : XAN2;

CISMeF acronym : XAN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xanthine dehydrogenase and aldehyde oxidase, combined deficiency of;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the molybdenum cofactor sulfurase gene (MOCOS, 613274.0001);

Laboratory abnormalities : Increased serum and urinary hypoxanthine; Hypouricemia; Decreased activities of xanthine dehydrogenase and xanthine oxidase; Decreased or absent urinary uric acid; Increased serum and urinary xanthine;

Prefixed ID : #603592;

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26/07/2025


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