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Journal of Inherited Metabolic Disease

, Volume 6, Issue 3, pp 105–107 | Cite as

Deoxyribose-5-phosphate aldolase deficiency — A harmless inborn error of metabolism

  • A. Chappel
  • R. D. Scholem
  • G. K. Brown
  • R. M. Truscott
  • R. G. H. Cotton
  • E. A. Haan
  • D. M. Danks
Article

Abstract

Evidence is presented that a deficiency of 2-deoxyribose-5-phosphate aldolase was present in a previously described patient who excreted metabolites of 2-deoxyribose in his urine. Minor clinical abnormalities present did not appear related to this disorder.

Keywords

Aldolase Glycogen Storage Disease Glycogen Phosphorylase Deoxyribose Glucagon Stimulation Test 
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

© SSIEM and MTP Press Limited 1983

Authors and Affiliations

  • A. Chappel
    • 1
  • R. D. Scholem
    • 1
  • G. K. Brown
    • 1
  • R. M. Truscott
    • 1
  • R. G. H. Cotton
    • 1
  • E. A. Haan
    • 1
  • D. M. Danks
    • 1
  1. 1.Department of PaediatricsUniversity of Melbourne and Birth Defects Research Institute, Royal Children's Hospital Research FoundationMelbourneAustralia

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