title: Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease.
abstract: OBJECTIVE
  Elevation of serum gamma-glutamyltransferase (GGT), in absence of a clinically significant liver damage, is often found in Myotonic Dystrophy type-1 (DM1). In this study we investigated if a specific GGT fraction pattern is present in DM1.
  
  
  METHODS
  We compared total and fractional GGT values (b-, m-, s-, f-GGT) among patients with DM1 or liver disease (LD) and healthy subjects (HS).
  
  
  RESULTS
  The increase of GGT in DM1 and LD, vs HS, was mainly due to s-GGT (median: 32.7; 66.7; and 7.9 U/L, respectively), and b-GGT (8.5; 18.9; and 2.1 U/L). The subset of DM1 patients matched with HS with corresponding serum GGT showed higher b-GGT (6.0 vs 4.2 U/L).
  
  
  CONCLUSIONS
  DM1 patients with normal total GGT values showed an alteration of the production and release in the blood of GGT fractions. Since increased s-GGT is also found in LD, a sub-clinical liver damage likely occurs in DM1 subjects apparently free of liver disease.
authors.affiliation: Scuola Superiore S. Anna, Pisa, Italy. m.franzini@sssup.it
authors.forename: Maria
authors.initials: M
authors.lastname: Franzini
authors.forename: Irene
authors.initials: I
authors.lastname: Fornaciari
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Leda
authors.initials: L
authors.lastname: Volpi
authors.forename: Giulia
authors.initials: G
authors.lastname: Ricci
authors.forename: Santino
authors.initials: S
authors.lastname: Marchi
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Gagliardi
authors.forename: Angelo
authors.initials: A
authors.lastname: Baggiani
authors.forename: Francesca
authors.initials: F
authors.lastname: Torracca
authors.forename: Vanna
authors.initials: V
authors.lastname: Fierabracci
authors.forename: Mario
authors.initials: M
authors.lastname: Miccoli
authors.forename: Alfonso
authors.initials: A
authors.lastname: Pompella
authors.forename: Michele
authors.initials: M
authors.lastname: Emdin
authors.forename: Aldo
authors.initials: A
authors.lastname: Paolicchi
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005591:Chemical Fractionation; D005260:Female; D006262:Health; D006801:Humans; D008107:Liver Diseases / Q000097:blood* / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000097:blood* / Q000201:enzymology*; D005723:gamma-Glutamyltransferase / Q000097:blood*
chemical_list: D005723:gamma-Glutamyltransferase; C554782:gamma-glutamyltransferase, human