@article{3097135,
    title = "Erythrocyte membrane acetylcholinesterase, Na+,K+-ATPase and Mg2+-ATPase
activities in patients with classical galactosaemia",
    author = "Tsakiris, S and Michelakakis, H and Schulpis, KH",
    journal = "ACTA PAEDIATRICA SCANDINAVICA",
    year = "2005",
    volume = "94",
    number = "9",
    pages = "1223-1226",
    publisher = "Wiley",
    doi = "10.1080/0803525051003096",
    keywords = "galactosaemia; AChE; Na+,K+-ATPase; Mg2+-ATPase",
    abstract = "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 Mg2+- 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."
}