Serum gamma-glutamyltransferase fractions in myotonic dystrophy type I: differences with healthy subjects and patients with liver disease.
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.
Franzini
Maria
M
Scuola Superiore S. Anna, Pisa, Italy. m.franzini@sssup.it
Fornaciari
Irene
I
Siciliano
Gabriele
G
Volpi
Leda
L
Ricci
Giulia
G
Marchi
Santino
S
Gagliardi
Giuseppina
G
Baggiani
Angelo
A
Torracca
Francesca
F
Fierabracci
Vanna
V
Miccoli
Mario
M
Pompella
Alfonso
A
Emdin
Michele
M
Paolicchi
Aldo
A
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*
D005723:gamma-Glutamyltransferase; C554782:gamma-glutamyltransferase, human