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Updated: Aug 3, 2026

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Published on: June 25, 2010
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in
E Christensen1, N J Brandt, T Laxdal
1University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
Abstract:
Light microscopy of the urinary sediment from a child suffering from urinary tract disease showed massive crystalluria. Most of the sediment consisted of characteristic round and brownish crystals. 2,8-Dihydroxyadenine was identified in the crystals by means of gas chromatography-mass spectrometry. The diagnosis of adenine phosphoribosyltransferase deficiency was established by the finding of a very low activity of this enzyme in erythrocytes from the patient, and of half the normal activity in the patients. The patient was first treated with a diet low in purine and with a high liquid intake. She stayed symptomless on this regimen, but the crystalluria persisted. On low doses of allopurinol the crystalluria disappeared.
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