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Background: Classical galactosaemia is commonly presented by high blood galactose ( Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. Aim: To evaluate Gal and Gal-1-P in the blood of patients and to correlate their levels with their erythrocyte membrane acetylcholinesterase (AChE), Na+, K+- ATPase and Mg2+-ATPase activities. Methods: Blood was obtained from nine patients on poor diet ( group B) followed by a 30-d strict diet ( group A) and controls ( group C) in order to evaluate Gal and Gal-1-P in Guthrie cards and to correlate their concentrations with the above enzyme activities, which were measured spectrophotometrically. Results: With the patients on a “loose” diet, AChE, Na+, K+-ATPase and Mg2+- ATPase activities were found to be decreased, as compared with those on strict diet and controls. Significantly ( p |
