title: [Adenine phosphoribosyltransferase deficiency and its purine metabolism].
abstract: Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder that causes 2,8-dihydroxyadenine (DHA) urolithiasis. Based on the level of residual enzyme activity in cell extracts, two types of APRT deficiency have been identified. Type I is complete enzyme deficiency. Type II shows residual activity in cell lysates, but enzyme activity is not demonstrable in intact cells. Patients with type II have at least one M136T allele and have been identified mainly in Japanese. Thus, in Japanese, patients with type I deficiency are homozygous for APRT*Q0 (null alleles) and patients with type II deficiency are either homozygotes with APRT*J (M136T allele) or compound heterozygotes with APRT*J/APRT*Q0.
authors.affiliation: Institute of Rheumatology, Tokyo Women' s Medical University.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Taniguchi
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D000483:Alleles; D044466:Asian People; D005838:Genotype; D006801:Humans; D009154:Mutation; D011687:Purines / Q000378:metabolism*; D052878:Urolithiasis / Q000209:etiology
chemical_list: D011687:Purines; C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine; C030985:purine