Literature DB >> 7413225

Hereditary deficiency of adenine phosphoribosyl transferase.

F Schabel, W Doppler, M Hirsch-Kauffmann, J Glatzl, M Schweiger, H Berger, P Heinz-Erian.   

Abstract

We describe a 12 year old patient who developed acute renal failure at the age of 18 months due to radiolucent "uric acid" stones. Measurement of APRT activity showed a complete dificiency in this patient (less than 0.02%). In the urine we found instead of uric acid 2.8-dihyroxyadenine as measured by high pressure liquid chromatography. The pedigree indicates an autosomal-recessive inheritance of this disorder.

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Year:  1980        PMID： 7413225

Source DB:  PubMed          Journal:  Padiatr Padol        ISSN： 0030-9338


  5 in total

1.  Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.

Authors:  E Christensen; N J Brandt; T Laxdal
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors:  F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

Authors:  S Fujimori; I Akaoka; K Sakamoto; H Yamanaka; K Nishioka; N Kamatani
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT).

Authors:  W Doppler; M Hirsch-Kauffmann; F Schabel; M Schweiger
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Renal failure due to 2,8-dihydroxyadenine urolithiasis.

Authors:  M C Greenwood; M J Dillon; H A Simmonds; T M Barratt; J R Pincott; C Metreweli
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183
  5 in total

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