xanthinuria type 1

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xanthinuria type 1

A hereditary condition (OMIM:278300) characterised by excretion of a large excess of xanthine in the urine and a tendency to form xanthine stones; uric acid is markedly reduced in serum and urine.

Molecular pathology
Caused by defects of XDH, which encodes xanthine dehydrogenase, a hydroxylase involved in the oxidative metabolism of purines.
References in periodicals archive ?
The dates for XU1 are slightly older than XU2 but given the amount of disturbance on the surface of the site the date for XU2 is considered more reliable.
0 was conducted on the difference in extrapolated mean VL lengths for XU1 (representing the uppermost cultural level) and XU35 (representing the lowermost cultural level).
Radiocarbon dates for XU1 and XU5 are almost identical (see below); XUs 1 to 5 are designated SU1 and XUs 6 to 8 are designated SU2.
Identifiable elements of dugong (Dugong dugon) bone were recovered from XU1 (mandible fragments, 36.
A major isolated peak in XU1, as with the rock rubble peak, reflects erosion and development of a lag deposit of water-worn bone.
Fifty grams of every second sample after XU1 were added to 100ml of 5% w/v Calgon and agitated in an ultrasonic bath for 5 minutes.