Abstract

GIROS, M et al. Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency. Arch Soc Esp Oftalmol [online]. 2003, vol.78, n.2, pp.111-114. ISSN 0365-6691.

Objective/Method: To alert about galactokinase deficiency (GK) as a possible cause of infantile cataracts, and even presenile cataracts in heterozygous carriers. Diagnosis by enzyme and galactitol determination would lead to the introduction of a galactose-free diet which completely prevents the damage. Result/Conclusions: We report on a highly consanguineous Spanish family of gypsy ethnia, with three females of different sibships affected by GK deficiency. The deficiency was due to their homozygosis for mutation P28T in gene GK1. P28T mutation in european Romani gypsies, is also present in Spanish gypsies. It is important to bear in mind that GK deficiency may be an important cause of blindness in that endogamous group.

Keywords : Galactosemia; cataracts; gypsy ethnia.