title: Development of a protocol for newborn screening for disorders of the galactose metabolic pathway.
abstract: The protocol evaluated in this paper employs an enzymatic assay of galactose metabolites, thin layer chromatography, and an assay of galactose-1-phosphate uridyl transferase on a single sample of blood collected routinely for newborn screening. Its effectiveness was tested by a retrospective study of known galactosemic blood samples, and also by a prospective study of 207,000 newborn samples from which 6 infants with severe transferase deficient galactosaemia and 2 infants with red cell epimerase deficiency were identified. The detection rate for severe transferase deficiency in the newborn population was 1:35,000. Advantages include low false positive rate, definitive diagnosis within 6 hours of sample receipt, and the use of technically simple and robust procedures. This protocol overcomes the difficulties encountered with previously described procedures.
mesh_terms: D001315:Australia; D002855:Chromatography, Thin Layer / Q000379:methods; D004796:Clinical Enzyme Tests; D019411:Clinical Laboratory Techniques; D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods; D009713:Nucleotidyltransferases / Q000097:blood*; D011446:Prospective Studies; D012189:Retrospective Studies; D014534:UDPglucose 4-Epimerase / Q000172:deficiency; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D014534:UDPglucose 4-Epimerase