Measurements of uridine diphosphate glucose and uridine diphosphate galactose — an appraisal
Tóm tắt
The recent disproof of a major deficiency of uridine diphosphate galactose in galactosemia should not lead investigators to assume either that enzymatic methods are unreliable for uridine sugar assays or that a defect in galactosylation in galactosemia has been excluded.
Tài liệu tham khảo
Berry GT, Palmieri MJ, Heales S, Leonard JV, Segal S (1992) Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Metabolism 41: 783–787
Dancis J, Balis ME (1955) Possible mechanism for disturbance in tyrosine metabolism in phenylpyruvic oligophrenia. Pediatrics 15:63–66
Gibson JB, Reynolds RA, Rogers S, Palmieri MJ, Segal S (1994) Uridine diphosphoglucose content of human erythrocytes: assessment by conversion to uridine diphosphglucuronate. J Pediatr 123: 906–914
Holton JB, Cruz F de la, Levy HL (1993) Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy. J Pediatr 123: 1009–1014
Holton JB, Stone JE, Keevill NJ (1993) An evaluation of enzyme methods for the estimation of uridine diphosphate glucose in red cells. Int Pediatr 8: 114–117
Kaufman FR, Xu YK, Ng WG, Donnell GN (1988) Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 112: 754–756
Keevill NJ, Holton JB, Allen JT (1993) Investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia. Clin Chim Acta 221: 135–142
Keevill NJ, Holton JB, Allen JT (1994) UDP-Glucose and UDP-Galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia. J Inherited Metab Dis 17: 23–26
Kirkman HN (1991) Red cell metabolites of galactose in galactosemic and control subjects. Pediatr Res 29: 131A
Kirkman HN (1992) Erythrocytic uridine diphosphate galactose in galactosaemia. J Inherited Metab Dis 15: 4–16
Kirkman HN, Clemons EH (1993) Estimates of uridine diphosphate hexoses in erythrocytes: Implications for galactosemia. J Pediatr 122: 257–259
Lowry OH, Passonneau JV (1972) A flexible system of enzymatic analysis. Academic Press, New York
Ng WG, Xu YK, Kaufman FR, Donnell GN (1989) Deficit of uridine diphosphate galactose in galactosaemia. J Inherited Metab Dis 12: 257–266
Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S (1992) Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyl transferase deficiency. Pediatr Res 31: 508–515
Palmieri MJ, Berry GT, Player DA, Rogers S, Segal S (1991) The concentration of red blood cell UDPGlucose and UDPGalactose determined by high-performance liquid chromatography. Anal Biochem 194: 388–393
Swanson MS, Markin RS, Stohs SJ, Angle CR (1984) Identification of cytidine diphosphodiesters in erythrocytes from a patient with pyrimidine nucleotidase deficiency. Blood 63: 665–670
Wehrli SL, Palmieri MJ, Berry GT, Kirkman HN, Segal S (1992)31PNMR analysis of red blood cell UDPGlucose and UDPGalactose: comparison with HPLC and enzymatic methods. Anal Biochem 202: 105–110