Deoxyribose-5-phosphate aldolase deficiency — A harmless inborn error of metabolism
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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.
KeywordsAldolase Glycogen Storage Disease Glycogen Phosphorylase Deoxyribose Glucagon Stimulation Test
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- Truscott, R. J. W., Halpern, B., Hammond, J., Hunt, S. M., Cotton, R. G. H., Haan, E. A. and Danks, D. M. A defect in deoxyribose metabolism.N. Eng. J. Med. 300 (1979a) 1115Google Scholar