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Xanthinuria is a rare genetic metabolic disorder caused by a deficiency of the enzyme "xanthine oxidase." This leads to high levels of xanthine in the blood and urine instead of being converted into uric acid.
read more about xanthinuria ...There are two types: Type I (isolated xanthine oxidase deficiency) and Type II (combined deficiency with aldehyde oxidase). Both lead to similar clinical presentations involving the kidneys and occasionally the eyes.
While primarily a renal issue, rare ocular manifestations include "microphthalmos" (small eyes) and corneal opacities. The buildup of metabolites can occasionally affect the crystalline lens.
The primary risk is the formation of xanthine stones in the urinary tract. Patients are encouraged to maintain high fluid intake and follow a low-purine diet to minimize stone formation.
Diagnosis is confirmed through blood and urine tests showing extremely low levels of uric acid and high levels of xanthine. Genetic sequencing can identify the specific mutation.
No. Gout is caused by high uric acid; Xanthinuria results in low uric acid because the body can't produce it properly.
It is extremely rare for Xanthinuria to affect vision significantly, though associated developmental eye defects can occur in some genetic variants.
Patients should generally avoid high-purine foods like organ meats, certain seafood, and heavy gravies.