Distribution of Erythrocyte Nucleotides in Pyrimidine 5'-Nucleotidase Deficiency

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Abstract
In pyrimidine 5''-nucleotidase deficiency, erythrocytes contain elevated levels of pyrimidine nucleotides. The composition of this nucleotide pool was examined by ion exchange chromatography on Dowex formate columns using a linear ammonium formate elution gradient. In contradistinction to normal erythrocytes, adenine nucleotides accounted for only 32% of the nucleotide pool. The remainder consisted of 50% cytidine and 16% uridine nucleotides. The remaining 2% was not identified. The most abundant compound appeared to be UDP glucose while high levels of CTP, CMP and an unidentified cytidine compound less polar than CMP accounted for most of the cytidine nucleotide pool. The possibility that abnormal nucleotides were due to an elevated reticulocyte count was excluded and erythrocytes from subjects heterozygous for pyrimidine 5''-nucleotidase deficiency did not have detectable levels of the abnormal nucleotides.

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