On the nature of L-xylulose reductase deficiency in essential pentosuria.
Essential pentosuria is the result of a partial deficiency of L-xylulose reductase. Red blood cells of normal individuals have been found to contain two L-xylulose reductases: a major and a minor isozyme. Red cells from pentosurics contain only one isozyme. The residual enzyme of pentosurics and the normal minor isozyme have similar Michaelis constants for L-xylulose and xylitol, similar activity responses to pH, and similar rates of migration when electrophoresed or subjected to ion-exchange chromatography. It is suggested that homozygosity for the pentosuria allele results in the absence of the major isozyme and that the residual isozyme of pentosurics is identical to the minor isozyme of normal individuals.
D000483:Alleles; D002852:Chromatography, Ion Exchange; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D007585:Jews; D007700:Kinetics; D007861:Lebanon; D008297:Male; D010375:Pedigree; D010429:Pentoses / Q000652:urine*; D013401:Sugar Alcohol Dehydrogenases / Q000097:blood / Q000172:deficiency* / Q000235:genetics
D007527:Isoenzymes; D010429:Pentoses; D013401:Sugar Alcohol Dehydrogenases; C023300:L-xylulose reductase