Transient neonatal galactosaemia.

Transient neonatal galactosaemia identified by newborn screening

“…Given the normal enzyme results, however, a primary enzymatic defect in galactose utilization is unlikely. The fact that normal galactose tolerance developed after several months of age in this patient, as well as in at least two of the previously reported patients (Taylor et al 1988;Cheetham 1989) suggests a possible maturational delay in galactose transport or utilization. The minimal elevations of plasma and urine amino acids present early on in our patient's course suggest mild liver dysfunction, consistent with the findings in two of the other three infants.…”

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Transient neonatal galactosaemia has been reported three times: twice in infants undergoing evaluation for failure to thrive, with rapid clinical and biochemical response to a galactose-free diet; and once in an infant identified by newborn screening (Bracco et al 1988;Taylor et al 1988;Cheetham 1989). In two of these infants, a diagnosis of cystic fibrosis was subsequently made (Cheetham 1989; R.J. Pollitt, personal communication, 1992). We report another infant with transient neonatal galactosaemia, who does not have cystic fibrosis, who was identified as a result of newborn screening.This Black female was delivered at 33 weeks' gestation, with a birth weight of 2.01 kg (50th centile).

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