Galactosemia detection from phenylketonuria screening.
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.
Henderson
M J
MJ
Department of Chemical Pathology, St. James's University Hospital, Leeds, U.K.
Shapiro
L
L
McCowan
C
C
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
D010649:Phenylalanine