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J Inherit Metab Dis. 2005;28(2):163-8.

Galactosaemia: early treatment with an elemental formula.

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Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA.


Classical galactosaemia is caused by deficient galactose-1-phosphate uridyl transferase activity, and is treated by dietary galactose restriction. Despite dietary treatment, long-term outcomes have not been uniformly favourable. Late complications may include speech abnormalities, ataxia, cognitive impairment, growth delay, bone alterations and ovarian failure. We report an infant whose erythrocyte galactose 1-phosphate (gal-1-P) levels remained well above the treatment range on a low-galactose (soy) formula. Once she was begun on an elemental formula (galactose-free), gal-1-P levels decreased rapidly to within the treatment range. Urine galactitol levels decreased on the elemental formula but were within published treatment ranges despite treatment changes. These did not correlate with the gal-1-P levels. This case suggests further study be considered to determine whether a truly galactose-free diet in infancy could alter the long-term prognosis of classical galactosaemia.

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