Xanthinuria

Definition:

Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2.

References:

[1]. D Levartovsky, et al. XDH gene mutation is the underlying cause of classical xanthinuria: a second report. Kidney Int. 2000 Jun;57(6):2215-20. [Content Brief]

[2]. I Sebesta, et al. Hereditary xanthinuria is not so rare disorder of purine metabolism. Nucleosides Nucleotides Nucleic Acids. 2018;37(6):324-328. [Content Brief]

[3]. K Ichida, et al. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest. 1997 May 15;99(10):2391-7. [Content Brief]

[4]. Tetsuya Yamamoto, et al. Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. Metabolism. 2003 Nov;52(11):1501-4. [Content Brief]

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