title: Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  (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.
authors.affiliation: Department of Experimental Physiology, Medical School, University of Athens, and Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. stsakir@cc.uoa.gr
authors.forename: Stylianos
authors.initials: S
authors.lastname: Tsakiris
authors.forename: Helen
authors.initials: H
authors.lastname: Michelakakis
authors.forename: Kleopatra H
authors.initials: KH
authors.lastname: Schulpis
mesh_terms: D000110:Acetylcholinesterase / Q000097:blood; D017301:Ca(2+) Mg(2+)-ATPase / Q000097:blood; D002648:Child; D004910:Erythrocyte Membrane / Q000201:enzymology*; D005690:Galactose / Q000097:blood; D005693:Galactosemias / Q000097:blood / Q000201:enzymology*; D005695:Galactosephosphates / Q000097:blood; D006115:Greece; D006801:Humans; D006867:Hydrolases / Q000097:blood*; D000254:Sodium-Potassium-Exchanging ATPase / Q000097:blood
chemical_list: D005695:Galactosephosphates; C029973:galactose-1-phosphate; D006867:Hydrolases; D000110:Acetylcholinesterase; D017301:Ca(2+) Mg(2+)-ATPase; D000254:Sodium-Potassium-Exchanging ATPase; D005690:Galactose