Klinik: 

Definition: Die autosomal rezessive Erkrankung Adenine-Phosphoribosyltransferase-Mangel (APRT) ist durch die Sedimentation von Dihydroxyadenin im Urogenitalsystem gekennzeichnet (DHA-Urolithiasis).

Literatur: 

Hidaka Y et al. (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
Menardi C et al. (1997) Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
Kamatani N et al. (1989) Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Mimori A et al. (1991) A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.