Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome.
Plasma urate levels and erythrocyte glucose-6-phosphate dehydrogenase activity were not significantly different in patients with Down's syndrome when compared with control subjects with mental retardation. No significant difference was found in 5-phosphoribosyl-1-pyrophosphate (PRPP) concentration and synthesis of PRPP in erythrocytes from glucose between subjects with Down's syndrome and controls. The purine metabolism of Down's syndrome is discussed.
D000293:Adolescent; D000328:Adult; D002648:Child; D004314:Down Syndrome / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005947:Glucose / Q000378:metabolism; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006801:Humans; D008297:Male; D010428:Pentosephosphates / Q000096:biosynthesis*; D010754:Phosphoribosyl Pyrophosphate / Q000096:biosynthesis*; D014527:Uric Acid / Q000097:blood
D010428:Pentosephosphates; D014527:Uric Acid; D010754:Phosphoribosyl Pyrophosphate; D005954:Glucosephosphate Dehydrogenase; D005947:Glucose