[Screening of newborns for inborn errors of galactose metabolism. Methods and results].
Three inborn errors of galactose metabolism as known today. Only two of them cause illness: the deficiencies of galactokinase and of galactose-l-phosphate uridyltransferase. Both can be detected through mass screening of newborns and are amenable to a simple and successful dietary treatment. Mass screening of newborns for disorders of galactose metabolism can be performed efficiently and inexpensively if it is incorporated in the general newborn screening program.
D001681:Biological Assay; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D004926:Escherichia coli; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008403:Mass Screening / Q000379:methods; D009713:Nucleotidyltransferases / Q000172:deficiency*; D010770:Phosphotransferases / Q000097:blood / Q000172:deficiency*; D013557:Switzerland; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency*
D010770:Phosphotransferases; D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose
Früherfassung von Anomalien im Galaktosestoffwechsel. Methoden und resultate