Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

We found adenine phosphoribosyltranferase (APRT) deficiency in two children and two adults of two unrelated German families and one Arabic family. All patients exhibited 2,8-dihydroxyadenine (2,8-DHA) urinary track stone and APRT activity was found to be totally absent in red blood cells (normal range: 0.7-1.5 Ilmollminlg Hb). In addition to the twins… CONTINUE READING