2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT

Molecular Genetics and Metabolism

Volumn 72, Issue 3, 2001, Pages 260-264

  Deng, Li ^a   Yang, Min ^a   Fründ, Stefan ^b   Wessel, Torsten ^b   De Abreu, Ronney A ^c   Tischfield, Jay A ^a   Sahota, Amrik ^a  

^a RUTGERS UNIVERSITY   (United States)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

2,8 dihydroxyadenine; Adenine phosphoribosyltransferase (APRT) deficiency; APRT; DNA sequence analysis; Lithiasis; Mutation; Renal; Restriction enzyme analysis; Urolithiasis

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; TAQ POLYMERASE;

ALLELE; ARTICLE; CASE REPORT; DNA FLANKING REGION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; LYMPHOCYTE; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; SEQUENCE ANALYSIS; UROLITHIASIS;

INSERTION SEQUENCES; RAPHIA FRATER;

EID: 0035718117     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3142     Document Type: Article

References (20)

1. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine urolithiasis
2. Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: The nature and frequency of errors caused by Taq DNA polymerase
3. Purine enzymes in rheumatoid arthritis: Possible association with response to azathioprine: A pilot study
4. Determination of purines including 2,8-dihydroxyadenine in urine using capillary electrophoresis
5. The restriction enzyme MseI applied for the detection of a possibly common mutation of the APRT locus
6. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients
7. Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese
8. Mutational basis of adenine phosphoribosyltransferase deficiency
9. Combined adenine phosphoribosyl-transferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
10. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme
11. Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type mutation involving intrastrand-templated repair
12. Altered kinetic properties of a mutant adenine phosphoribosyltransferase
13. Adenine phosphoribosyltransferase deficiency: Its inheritance and occurrence in a female with gout and renal disease
14. Partial deficiency of adenine phosphoribosyltransferase in man
15. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease
16. Molecular characterization of a novel mutation in APRT heterozygotes
17. Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani
18. Purine phosphoribosyltransferases
19. 2,8-Dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant
20. Complete deficiency of adenine phosphoribosyltransferase: Report of a family