Studies on Galactose Oxidation in Down's Syndrome

Abstract

THERE is general agreement that the conversion of galactose to glucose involves the following steps: In congenital galactosemia (homozygotes) there is an absence of Gal-1-P uridyl transferase, step 2.1 Among parents of such children (heterozygote) there is a partially diminished level of this enzyme.2 3 4 5 Recently, Brandt and his co-workers6 have reported a 50 per cent higher activity of Gal-1-P uridyl transferase in the whole blood of patients with Down's syndrome (mongolism) as compared with normal controls.The purpose of the present paper is to describe some observations that may help to elucidate this difference.Materials and MethodsExcept where indicated . . .