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Digitale Medien

Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals (1987)

Christensen, E. ; Brandt, N. J. ; Laxdal, T.

Springer

Journal of inherited metabolic disease 10 (1987), S. 187-194

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Details

ISSN: 1573-2665

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: 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 parents. 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF01800046

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