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Erythrocyte Adenine PRPP Availability in Two Types of APRT Deficiency Using Silicon Oil Method

  • Fujio Takeuchi
  • Naoyuki Kamatani
  • Yutaro Nishida
  • Terumasa Miyamoto
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Summary

Erythrocyte phosphoribosylpyrophosphate availability for adenine was measured by silicon oil method previously described. The homozygotes of Japanese type APRT deficiency (n = 6, from 4 families) showed 4.3 ± 2.7 % (mean ± standard deviation) of adenine PRPP availability and the heterozygotes (n = 5) showed 86.0 ±6.0 % of adenine PRPP availability. All homozygotes of Japanese type APRT deficiency from 4 unrelated families show the equally decreased adenine PRPP availability and it supports the presumption of the presence of the similar defect of APRT in all families. In a Japanese family of complete APRT deficiency, adenine PRPP availability of the homozygote was undetectable and that of the heterozygote was normal low (54.3 % of normal mean activity). The adenine PRPP availability of the heterozygote of complete APRT deficiency was diagnostically different from that of the homozygotes of Japanese type APRT deficiency, despite, these two conditions showed almost the same erythrocyte APRT activity. These results prove that the silicon oil method previously written is the rapid and useful method for differential diagnosis between two types of APRT deficiency.

Keywords

Unrelated Family Similar Defect Japanese Family Homozygous Patient Heterozygous Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Fujio Takeuchi
    • 1
  • Naoyuki Kamatani
    • 2
  • Yutaro Nishida
    • 1
  • Terumasa Miyamoto
    • 1
  1. 1.Depart. of Med. and Phys. Ther., Fac. of Med.Univ. of TokyoJapan
  2. 2.Insti. of Rheumatol.Tokyo Women’s Med. Col.TokyoJapan

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