High tolerance for oral galactose in classical galactosaemia: dietary implications

Abstract

Aim: To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia.

Methods: For a period of six weeks, increasing doses of oral galactose to a maximum of 600 mg per day, were added to a very strict galactose restricted diet in three adolescent patients homozygous for the Q188R mutation. During the study, physical examination, including an extended ophthalmic examination, and laboratory studies were performed on a weekly basis.

Results: No significant change in any of the studied clinical or biochemical parameters was observed.

Conclusions: These findings provide further evidence that attempts to exclude trace amounts of galactose from the diet are not justified. Once the diet is made more liberal, a long term follow up study will be necessary.

Figure 1

Urinary galactitol values of patients 1, 2, and 3 during the study.

Figure 2

Red cell galactose-1-phosphate values of patients 1, 2, and 3 during the study. MPV, maximum permissible value.