Erythrocyte nucleotide pattern in two children in a Norwegian family with pyrimidine 5'-nucleotidase deficiency.
In the erythrocytes from two Norwegian children, a brother and a sister, with a hemolytic anemia due to pyrimidine 5'-nucleotidase deficiency, the pyrimidine and purine nucleotides have been investigated using HPLC with a strong anionic exchanger. The standard procedure was complemented with some additional elution systems which made it feasible to separate in the extract and to analyse, in addition to the conventional mono-, di- and triphosphates, UDP-glucose, UDP-N-acetylglucosamine, CDP-choline and CDP-ethanolamine. The two different purine nucleotides (A, G) and the two different pyrimidine nucleotides (U, C) exhibited normal ratios (energy charge ratios) between the conventional nucleotides. This would indicate that the erythrocytes have a sufficient energy production. It is suggested that the partly intravascular hemolysis might be due to disturbed synthesis of phospholipids.
D015720:5'-Nucleotidase; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004910:Erythrocyte Membrane / Q000201:enzymology; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D009711:Nucleotides / Q000097:blood*; D010743:Phospholipids / Q000097:blood; D011742:Pyrimidine Nucleotides / Q000097:blood
D009711:Nucleotides; D010743:Phospholipids; D011742:Pyrimidine Nucleotides; D009708:Nucleotidases; D015720:5'-Nucleotidase