Diet treatment of Galactosemic Infants: A Pilot Study

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DESCRIPTION (provided by applicant): Although classical galactosemia has been recognized for more than half a century and treated with a galactose-restricted diet, our knowledge of the disorder is fragmented and incomplete. An enigma is why the diet treatment has failed to prevent the poor outcome of speech abnormalities, impaired cognitive development, neurologic syndromes and ataxia and ovarian failure in most females. A critical time in the disorder is the neonatal period. The very high levels of plasma galactose and galactitol, red blood cell (RBC) galactose-1-phosphate, and urine galactitol and galactonate fall with institution of a galactose-free formula and clinical symptoms subside. However, it may take several months before the abnormal metabolites stabilize at a low but still elevated level. The contribution of the metabolite levels in the neonatal period to the later long-term complications is unknown. Soy-based infant formulas used in treating galactosemic newborns, though devoid of free galactose, contain galactose bound to soy protein. The amount of galactose which may be bioavailable would increase the galactose burden by several grams in the first six months of life. Elemental formulas such as Neocate are entirely galactose free and may be preferable for the treatment of galactosemia. This application is a randomized, open-label pilot study whose objective is to determine whether there is a difference in abnormal galactose metabolite levels in plasma, RBC, and urine of newborn galactosemic babies placed on a soybased and those placed on an elemental formula. The rationale for the pilot study is to obtain data to support the hypothesis that the use of an elemental formula entirely galactose free in the initial treatment of newly diagnosed galactosemic infants by reducing the galactose burden will more quickly ameliorate biochemical parameters of galactose intoxication compared to a formula containing protein bound galactose and result in lower levels of plasma and urine galactitol, red cell and urine galactonate and RBC galactose-1-phosphate, galactitol, and galactonate. Evidence from this study may have a future impact on how newborn galactosemics are treated with a potential for moderating long-term complications.