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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 < 0.01) inverse correlation coefficients of the enzyme activities were found with Gal-1-P levels. Conclusion: (a) AChE, Na+ , K+ -ATPase and Mg 2+ -ATPase activities were determined to be decreased in poorly controlled patientswith classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal-1-P blood levels. (c) Since Na+ , K+ -ATPase in the erythrocyte membranes is the isomer of Na + , K+ -ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity.
Background: Classical galactosaemia is generally 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 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. : 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 <0.01) inverse correlation coefficients of the enzyme activities were found with Gal-1-P levels. (A) AChE, Na +, K + -ATPase and Mg 2+ -ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (B) The enzyme activities were inversely correlated with the Gal -1-P blood levels. (C) Since Na +, K + -ATPase in the erythrocyte membranes is the isomer of Na +, K + -ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity.