...J. L. Maddocks; S. A. Al-Safi 1. A simple method for diagnosing adenine phosphoribosyltransferase (APRT) deficiency using urine is described. 2. T.l.c. of 1 μl of urine from a child with APRT deficiency was performed and adenine was easily detected by its brilliant blue phosphorescence at liquid...

... separate paediat- ric disorders of purine metabolism: purine nucleo­ side phosphoryiase deficiency, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency. 2. The abnormal purines identified in each case were specific for the defect and directly related to it: adenine in adenine...