IllnessXanthinuria type I + II

NGS +

Hereditary xanthinuria mostly affects the kidneys. It is characterized by high xanthine or very low uric acid levels in the blood and urine. Excess xanthine can be deposited in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally deposit together in kidney stones. Associated symptoms may include abdominal pain, recurrent urinary tract infections and hematuria. Less commonly, xanthine crystals deposit in muscles causing pain and cramps. In some patients with hereditary xanthinuria, the condition causes no health problems. There are 2 types, distinguished by the enzymes involved, that cause essentially the same symptoms. Xanthinuria type I is caused by mutations in the XDH gene, and type II results from variants in the MOCOS gene. The disease is inherited in an autosomal recessive manner. Since molecular genetic yield is currently unknown, negative DNA test results do not exclude clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK2692/

• Alias: Hereditary xanthinuria
• Alias: XDH deficiency
• Alias: Xanthine dehydrogenase + aldehyde oxidase, combined deficiency
• Alias: Xanthine dehydrogenase deficiency, XDH
• Alias: Xanthine oxidase deficiency
• Xanthinuria, type I (XDH)
• Xanthinuria, type II (MOCOS)