title: Galactosemia detection from phenylketonuria screening.
abstract: We describe a case of classical galactosemia in which the diagnosis was first suggested by the finding of a moderately increased blood-spot phenylalanine concentration. The child was clinically unaffected at six days when the initial sample was collected. Prompt institution of dietary management averted a serious metabolic crisis.
authors.affiliation: Department of Chemical Pathology, St. James's University Hospital, Leeds, U.K.
authors.forename: M J
authors.initials: MJ
authors.lastname: Henderson
authors.forename: L
authors.initials: L
authors.lastname: Shapiro
authors.forename: C
authors.initials: C
authors.lastname: McCowan
mesh_terms: D005260:Female; D005693:Galactosemias / Q000097:blood* / Q000178:diet therapy; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000517:prevention & control
chemical_list: D010649:Phenylalanine