Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolism.
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.
D000446:Aldehyde-Lyases / Q000172:deficiency* / Q000378:metabolism; D003855:Deoxyribose / Q000652:urine; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*
D003855:Deoxyribose; D000446:Aldehyde-Lyases; C020019:deoxyribose-phosphate aldolase