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Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods.
Clin Chim Acta. 1977 Jul 01; 78(1):145-50.CC

Abstract

When measuring with the spectrophotometric UDP-Glu consumption test, the galactose-1-phosphate uridyltransferase (Gal-PUT) activity in erythrocyte lysates from a 22-month-old infant with a late onset form of galactosemia was found to be approximately 25% of normal. With a radiochemical assay only a very low residual activity could be detected (+/- 1% of normal). Preincubation of the patient's lysate with purified NADase caused a marked decrease of residual Gal-PUT activity as judged from the data obtained with the consumption test. The radiochemical assay was not influenced by a similar pre-treatment. The high level of residual activity found with the consumption test in this patient was attributed to the consumption of UDP-Glu by other reactions than Gal-PUT. Because it is a direct, simple and generally applicable assay, the radiochemical procedure is suggested to be the best method for the more detailed enzymological characterisation of the Gal-PUT deficient state in galactosemics.

Authors

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Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

884844

Citation

De Bruyn, C H., et al. "Galactose-1-phosphate Uridyltransferase Activities in Erythrocytes From a Patient With Galactosemia: Discrepancy Between Two Methods." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 78, no. 1, 1977, pp. 145-50.
De Bruyn CH, Raymakers C, Wensing A, et al. Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods. Clin Chim Acta. 1977;78(1):145-50.
De Bruyn, C. H., Raymakers, C., Wensing, A., & Oei, T. L. (1977). Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods. Clinica Chimica Acta; International Journal of Clinical Chemistry, 78(1), 145-50.
De Bruyn CH, et al. Galactose-1-phosphate Uridyltransferase Activities in Erythrocytes From a Patient With Galactosemia: Discrepancy Between Two Methods. Clin Chim Acta. 1977 Jul 1;78(1):145-50. PubMed PMID: 884844.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods. AU - De Bruyn,C H, AU - Raymakers,C, AU - Wensing,A, AU - Oei,T L, PY - 1977/7/1/pubmed PY - 1977/7/1/medline PY - 1977/7/1/entrez SP - 145 EP - 50 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin. Chim. Acta VL - 78 IS - 1 N2 - When measuring with the spectrophotometric UDP-Glu consumption test, the galactose-1-phosphate uridyltransferase (Gal-PUT) activity in erythrocyte lysates from a 22-month-old infant with a late onset form of galactosemia was found to be approximately 25% of normal. With a radiochemical assay only a very low residual activity could be detected (+/- 1% of normal). Preincubation of the patient's lysate with purified NADase caused a marked decrease of residual Gal-PUT activity as judged from the data obtained with the consumption test. The radiochemical assay was not influenced by a similar pre-treatment. The high level of residual activity found with the consumption test in this patient was attributed to the consumption of UDP-Glu by other reactions than Gal-PUT. Because it is a direct, simple and generally applicable assay, the radiochemical procedure is suggested to be the best method for the more detailed enzymological characterisation of the Gal-PUT deficient state in galactosemics. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/884844/Galactose_1_phosphate_uridyltransferase_activities_in_erythrocytes_from_a_patient_with_galactosemia:_discrepancy_between_two_methods_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90347-3 DB - PRIME DP - Unbound Medicine ER -