Skip to Content

xanthinuria

Pronunciation: zan'thi-nyu're-a

Definition:

  1. Excretion of abnormally large amounts of xanthine in the urine.
  2. A disorder [MIM*278300], characterized by urinary excretion of xanthine in place of uric acid, hypouricemia, and occasionally the formation of renal xanthine stones. There are two types: type I is due to xanthine dehydrogenase (XDH) deficiency, and type II is due to deficiencies of both XDH and aldehyde oxidase. Autosomal recessive inheritance, caused by mutation in the XDH gene on chromosome 2p in some cases.

Synonym(s): xanthiuria, xanthuria

[xanthine + G. ouron, urine]

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide