Primary xanthinuria [2 genes]

Xanthinuria is an autosomal recessive disease that is caused by either xanthine dehydrogenase deficiency (xanthinuria type I) or xanthine dehydrogenase and aldehyde oxidase deficiency (xanthinuria type II).
Xanthinuria type I is caused by XDH gene mutations. This gene encodes xanthine dehydrogenase, which carries out the final stages of purine metabolism (conversion of hypoxanthine to xanthine and xanthine to uric acid). It is characterized by low concentrations of uric acid in blood and urine and high concentrations of xanthine in urine, which produces urolithiasis. Xanthinuria type II is due to mutations in the MOCOS gene, which codes for molybdenum cofactor sulfarase. Patients present hematuria, kidney stones, urolithiasis, or even acute kidney failure.

Unknown

  • Genetic diagnosis
  • Genetic counseling
  • Low purine diet
  • Abundant liquid intake
  • Pyelolithotomy in case of kidney stones

The identification of genetic variants causing primary xanthinuria allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when primary Xanthinuria syndrome is suspected, which may include the following clinical characteristics:

  • Abdominal pain
  • Recurrent urinary tract infections
  • Low uric acid in serum and urine
  • Urolithiasis
  • Hematuria
  • Kidney colic
  • Acute kidney failure

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How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Primary xanthinuria

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110432

Primary xanthinuria: View panel
  • MOCOS
  • XDH

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Sebesta I, Stiburkova B, Krijt J. Hereditary xanthinuria is not so rare disorder of purine metabolism. Nucleosides Nucleotides Nucleic Acids. May 2018 37(6):324-328. PMID: 29723117 DOI: 10.1080/15257770.2018.1460478
  2. Kimiyoshi I, Yoshihiro A, Ken O, Takeshi N. Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans. Nov 2012 3(11): 15475–15495. PMID: 23203137 DOI: 10.3390/ijms131115475