Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA a...

2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency.

Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.

1. We have compared urinary purine excretion by two different methods in three separate paediatric 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 phophoribosyltr...

Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formatio...

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme.

We have studied the catalytic, immunochemical, and electrophoretic properties of adenine phosphoribosyltransferase in hemolysates from 30 patients with a deficiency of this enzyme in six unrelated families. We have found that: 1) the level of adenine phosphoribosyltransferase enzyme activity and immunoreactive protein in the four homozygous deficient patients was less than 1% of control values;...