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Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency.
- Source :
-
Clinical chemistry [Clin Chem] 1996 Feb; Vol. 42 (2), pp. 326-8. - Publication Year :
- 1996
-
Abstract
- Using HPLC methods, we measured the concentrations of nucleosides and nucleotides for a patient with no purine nucleoside phosphorylase (PNP; EC 2.4.2.1) enzymatic activity. Concentrations of inosine and guanosine were abnormally high in urine and plasma, whereas guanosine diphosphate (GDP) and guanosine triphosphate (GTP) concentrations in erythrocytes were depleted. The unusual presence of deoxyribonucleosides (deoxyinosine and deoxyguanosine) and deoxyribonucleotides (dGDP and dGTP) was also notable. Thus, HPLC represents an accurate and useful tool for the study of purine metabolic disorders.
- Subjects :
- Deoxyadenine Nucleotides blood
Deoxyguanine Nucleotides blood
Erythrocytes metabolism
Guanosine blood
Guanosine urine
Guanosine Diphosphate blood
Guanosine Triphosphate blood
Humans
Infant
Inosine blood
Inosine urine
Male
Chromatography, High Pressure Liquid methods
Purine-Nucleoside Phosphorylase deficiency
Purine-Pyrimidine Metabolism, Inborn Errors metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0009-9147
- Volume :
- 42
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Clinical chemistry
- Publication Type :
- Academic Journal
- Accession number :
- 8595732