Method of diagnosing galactosemia in neonatal screening

摘要

A method of diagnosing galactosemia in blood samples from neonates by determining GAL-1-P concentrations before 5-7 days of life is disclosed. The removal of interfering compounds allows a more specific and therefore more accurate determination of GAL-IP levels in newborn screening for galactosemia using mass spectrometry. This is of major importance when investigating samples from children that have not yet achieved a steady state of GAL-IP (i.e. before 5-7 day of life).

主权项

1. A method of determining the galactose-1-phosphate (GAL-1-P) concentration in an early blood sample from a neonate, said blood sample comprising hexosemonophosphates including GAL-1-P and at least one hexosemonophosphate having a carbonyl group not modified in the 1 position, said method comprising oxidizing, reducing, or reacting with an amine, the carbonyl group not modified in the 1 position of said at least one hexosemonophosphate in said blood sample, such that said hexosemonophosphates not modified in the 1 position are chemically depleted, and then measuring said GAL-1-P concentration in said blood sample.