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xanthinuria

Translations

xanthinurianoun

xanthinurias

ксантинурия

Xanthinuria is a rare metabolic disorder.

Ксантинурия — это редкое метаболическое расстройство.

Definitions

xanthinurianoun

A hereditary metabolic disorder (types I and II) caused by deficiency of the enzyme xanthine dehydrogenase/oxidase, leading to excessive urinary excretion of xanthine and markedly reduced or absent uric-acid levels.

Type I xanthinuria is often discovered incidentally when routine tests show an unusually low serum uric-acid concentration.

The pathological presence of an abnormally high concentration of xanthine in the urine, regardless of cause.

Transient xanthinuria may be observed in premature infants with immature purine metabolism.