CASE OF GALACTOSEMIA IDENTIFIED IN A FOUR DAY OLD INFANT BY PAPER CHROMATOGRAPHIC TECHNIC

[摘要] Galactosemia was diagnosed in a four day old girl by identification of the urinary sugar as galactose, using paper chromatographic technic. The child was placed immediately on a lactose-free formula, after which the urine became sugar- and proteinfree. Since the infant was fed only for a short time on lactose-containing formula, prognosis may be considered good. The family history includes one healthy child, one whose galactosemia was diagnosed at the age of 3½ months, and paternal grandfather with a "milk intolerance."Details of the laboratory technic used in the identification of urinary galactose are presented. It is suggested that, by examination of the amniotic fluid of women in whose offspring galactosemia may be suspected because of a positive family history, a diagnosis might be made at birth, and the baby never be given a lactose formula.

[学科分类] 儿科学