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Galactosaemia: Early treatment with an elemental formula
Author(s) -
Zlatunich C. O.,
Packman S.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-5516-2
Subject(s) - galactosemia , galactose , galactitol , medicine , endocrinology , ataxia , urine , physiology , pediatrics , biology , biochemistry , psychiatry
Summary 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.