Xanthinuria is a medical condition in which an individual excretes too much xanthine in their urine. The spelling of xanthinuria is pronounced /zanθɪˈnjʊərɪə/ in IPA phonetic transcription. The word begins with the letter "x", which is pronounced as /ks/ in English. The second syllable is pronounced with a voiced "th" (/ð/) sound, followed by the short "i" sound (/ɪ/). The stress is on the third syllable, which is pronounced as "nu" (/njuː/). Then the fourth syllable contains a schwa sound (/ə/). Finally, the word ends with the unstressed "ia" (/ɪə/) sound.
Xanthinuria is a metabolic disorder characterized by an abnormal accumulation of xanthine in the urine due to a defect in the process of purine metabolism. This condition is typically inherited and results from mutations in specific genes responsible for encoding enzymes involved in the breakdown of purines.
Normally, the purine compounds adenine and guanine are degraded into xanthine and subsequently into uric acid, which can be further metabolized and excreted from the body. However, individuals with xanthinuria lack the proper functioning of the enzymes xanthine dehydrogenase and/or xanthine oxidase, which are essential in the conversion of xanthine to uric acid.
The inability to effectively convert xanthine leads to its accumulation in the bloodstream and subsequent excretion into the urine. This can result in the formation of xanthine stones in the urinary tract and may lead to kidney complications, such as renal failure or kidney stones.
Symptoms of xanthinuria can include recurrent kidney stones, hematuria (blood in the urine), or urinary tract infections. The condition can be diagnosed through urine tests that reveal high levels of xanthine.
By adopting specific dietary modifications to reduce purine intake and prevent the formation of xanthine stones, individuals with xanthinuria can effectively manage the condition. Additionally, medication may be prescribed to control the levels of xanthine and uric acid in the body.
In summary, xanthinuria is a hereditary metabolic disorder characterized by an accumulation of xanthine in the urine. It can lead to urinary tract complications and is managed through dietary changes and medication.
The excretion of abnormally large amounts of xanthin in the urine.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "xanthinuria" is coined from two Greek roots: "xantho" meaning "yellow" and "urine" meaning "urine".
The term describes a medical condition characterized by the presence of excess xanthine, a yellowish compound, in the urine. It is formed by combining the Greek word "xantho" with the medical suffix "-uria" which denotes "presence in the urine".