Xanthinuria

Xanthinuria
Classification and external resources
Xanthine
ICD-10	E79.8
ICD-9	277.2
OMIM	278300 603592
DiseasesDB	14194 29821
eMedicine	ped/2452

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

It was first formally characterized in 1954.^[1]

Causes

It can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. ^[2]

Presentation

Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.

Treatment

There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.

References

1. ^ Dent CE, Philpot GR (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". Lancet 266 (6804): 182–5. doi:10.1016/S0140-6736(54)91257-X. PMID 13118765. 
2. ^ Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O (1997). "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J. Clin. Invest. 99 (10): 2391–7. doi:10.1172/JCI119421. PMID 9153281. 

External links

• 644546576 at GPnotebook
• Xanthinuria at NIH's Office of Rare Diseases