Abstract
Determination of Gal-1-P was perfor med by measuring the ammount of /14C/ Glu 1-P formed in the reaction: UDP-/14C/ Glu+Gal-1-P UDPGal +/14C/Glu-1-P, in the presence of exogenous enzyme hexose-1-phosphate uridyltranferase. The ammount of /14C/Glu-1-P is a measure of the ammount of Gal-1-P present in the investigated material. This method allows to determine Gal-1-P in RBC in the range: about 1,0 to 25 mg/100 ml RBC. The method covers the expected concentrations range for clinical purposes. The values of erythrocyte Gal-1-P in galactosemic patients cover the range: 3, 47-9mg/100ml RBC. In none of the healthy children was found a measurable ammount /obelow 0,8 mg/100ml RBC. The accumulation of gal-P in RBC of galactosemic patients was con firmed by in vitro preincubation with galactose. This method gives reproducib le results, and is simpler and less time consuming than other methods.
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Bozkowa, K., Duchnowska, A., Chojnacki, T. et al. NEW RADIOISOTOPIC METHOD FOR ESTIMATION OF GALACTOSE-l-PHOSPHATE IN GALACTOSEMIA. Pediatr Res 9, 860 (1975). https://doi.org/10.1203/00006450-197511000-00048
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DOI: https://doi.org/10.1203/00006450-197511000-00048
